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Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/jama.1990.03440180133052openalex-snapshot
The Metabolic Basis of Inherited Disease
inferredcites →https://doi.org/10.1002/(sici)1098-1004(1996)7:1<23::aid-humu3>3.0.co;2-qopenalex-snapshot
Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
inferredcites →https://doi.org/10.1002/ajmg.1320280136openalex-snapshot
A nonpathologic allele (IW) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome
inferredcites →https://doi.org/10.1002/ajmg.1320470732openalex-snapshot
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies
inferredcites →https://doi.org/10.1002/humu.1380010104openalex-snapshot
Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
inferredcites →https://doi.org/10.1002/humu.1380010204openalex-snapshot
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
inferredcites →https://doi.org/10.1002/humu.1380010412openalex-snapshot
α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
inferredcites →https://doi.org/10.1002/humu.1380020113openalex-snapshot
A deletion/insertion mutation in theIDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaeeharidosis IH)
inferredcites →https://doi.org/10.1002/humu.1380020215openalex-snapshot
Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele
inferredcites →https://doi.org/10.1002/humu.1380020603openalex-snapshot
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
inferredcites →https://doi.org/10.1002/humu.1380030316openalex-snapshot
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations
inferredcites →https://doi.org/10.1002/humu.1380030330openalex-snapshot
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH)
inferredcites →https://doi.org/10.1002/humu.1380060111openalex-snapshot
Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)
inferredcites →https://doi.org/10.1002/humu.1380060119openalex-snapshot
Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene
inferredcites →https://doi.org/10.1002/pd.1970050209openalex-snapshot
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells
inferredcites →https://doi.org/10.1006/geno.1994.1621openalex-snapshot
Murine α-l-Iduronidase: cDNA Isolation and Expression
inferredcites →https://doi.org/10.1006/prep.1994.1035openalex-snapshot
Overexpression of the Human Lysosomal Enzyme α-L-Iduronidase in Chinese Hamster Ovary Cells
inferredcites →https://doi.org/10.1007/bf00206770openalex-snapshot
An update on the frequency of mucopolysaccharide syndromes in British Columbia
inferredcites →https://doi.org/10.1007/bf00220095openalex-snapshot
PCR detection of two RFLPs in exon I of the ?-L-iduronidase (IDUA) gene
inferredcites →https://doi.org/10.1007/bf00711517openalex-snapshot
Diagnosis and prevention of lysosomal storage diseases in Russia
inferredcites →https://doi.org/10.1007/bf00711520openalex-snapshot
Long‐term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype
inferredcites →https://doi.org/10.1007/bf01233067openalex-snapshot
Huntington disease-linked locusD4S111 exposed as the ?-l-iduronidase gene
inferredcites →https://doi.org/10.1007/bf02222956openalex-snapshot
Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem
inferredcites →https://doi.org/10.1007/bf02265303openalex-snapshot
Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele
inferredcites →https://doi.org/10.1016/0002-9394(62)91975-xopenalex-snapshot
Filtering Operations for Glaucoma: A Comparative Study
inferredcites →https://doi.org/10.1016/0022-2836(91)90528-eopenalex-snapshot
Suggestions for “safe” residue substitutions in site-directed mutagenesis
inferredcites →https://doi.org/10.1016/0092-8674(94)90302-6openalex-snapshot
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
inferredcites →https://doi.org/10.1016/0885-4505(92)90028-wopenalex-snapshot
Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein
inferredcites →https://doi.org/10.1016/0888-7543(91)90039-hopenalex-snapshot
Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene
inferredcites →https://doi.org/10.1016/0888-7543(92)90053-uopenalex-snapshot
Structure and sequence of the human α-l-iduronidase gene
inferredcites →https://doi.org/10.1016/b978-1-4377-0435-8.00036-6openalex-snapshot
Lysosomal Storage Diseases
inferredcites →https://doi.org/10.1016/s0021-9258(19)50465-3openalex-snapshot
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog.
inferredcites →https://doi.org/10.1016/s0140-6736(72)91159-2openalex-snapshot
ALLELISM, NON-ALLELISM, AND GENETIC COMPOUNDS AMONG THE MUCOPOLYSACCHARIDOSES
inferredcites →https://doi.org/10.1016/s0888-7543(05)80145-4openalex-snapshot
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus
inferredcites →https://doi.org/10.1016/s0888-7543(05)80182-xopenalex-snapshot
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
inferredcites →https://doi.org/10.1038/ng1193-274openalex-snapshot
A mutation in CFTR produces different phenotypes depending on chromosomal background
inferredcites →https://doi.org/10.1042/bj2590199openalex-snapshot
Immunopurification and characterization of human α- l -iduronidase with the use of monoclonal antibodies
inferredcites →https://doi.org/10.1042/bj3040043openalex-snapshot
Recombinant α- l -iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts
inferredcites →https://doi.org/10.1073/pnas.69.8.2048openalex-snapshot
The Defect in the Hurler and Scheie Syndromes: Deficiency of α-L-Iduronidase
inferredcites →https://doi.org/10.1073/pnas.88.21.9695openalex-snapshot
Human alpha-L-iduronidase: cDNA isolation and expression.
inferredcites →https://doi.org/10.1073/pnas.91.26.12937openalex-snapshot
Enzyme replacement in a canine model of Hurler syndrome.
inferredcites →https://doi.org/10.1089/hum.1992.3.4-371openalex-snapshot
Correction of Mucopolysaccharidosis Type I Fibroblasts by Retroviral-Mediated Transfer of the Human α- l -Iduronidase Gene
inferredcites →https://doi.org/10.1093/hmg/2.8.1311openalex-snapshot
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
inferredcites →https://doi.org/10.1093/hmg/2.9.1471openalex-snapshot
Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype
inferredcites →https://doi.org/10.1093/hmg/3.6.861openalex-snapshot
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
inferredcites →https://doi.org/10.1093/milmed/138.8.503bopenalex-snapshot
Heritable Disorders of Connective Tissue
inferredcites →https://doi.org/10.1093/nar/14.11.4683openalex-snapshot
A new method for predicting signal sequence cleavage sites
inferredcites →https://doi.org/10.1093/nar/19.20.5796-aopenalex-snapshot
PCR of a Kpnl RFLP in the α-L-iduronidase (IDUA) gene
inferredcites →https://doi.org/10.1093/nar/19.22.6348-aopenalex-snapshot
PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease
inferredcites →https://doi.org/10.1099/00221287-139-6-1235openalex-snapshot
Genetic organization, sequence and biochemical characterization of recombinant -xylosidase from Thermoanaerobacterium saccharolyticum strain B6A-RI
inferredcites →https://doi.org/10.1126/science.169.3940.72openalex-snapshot
Scheie and Hurler Syndromes: Apparent Identity of the Biochemical Defect
inferredcites →https://doi.org/10.1128/aem.56.4.1017-1024.1990openalex-snapshot
Cloning, sequence analysis, and expression of genes encoding xylan-degrading enzymes from the thermophile "Caldocellum saccharolyticum"
inferredcites →https://doi.org/10.1136/jcp.36.8.961-bopenalex-snapshot
The Metabolic Basis of Inherited Disease
inferredcites →https://doi.org/10.1146/annurev.bi.60.070191.001353openalex-snapshot
LYSOSOMAL STORAGE DISEASES
inferredcites →https://doi.org/10.1159/000112332openalex-snapshot
Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.3988395openalex-extracted
Targeted Pseudouridylation: A Novel Approach for Suppressing Nonsense Mutations in Disease Genes
inferred← citeshttps://doi.org/10.2139/ssrn.4773584openalex-extracted
Targeted Pseudouridylation Identifies a Novel Ψ-Ψ Codon-Anticodon Pairing in Nonsense Suppression and Translational Recoding
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(20000117)90:2<108::aid-ajmg3>3.0.co;2-yopenalex-snapshot
Unique frequency of known mutations in Brazilian MPS I patients
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1997)10:6<479::aid-humu10>3.0.co;2-xopenalex-snapshot
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
inferred← citeshttps://doi.org/10.1002/(sici)1098-1004(1998)11:4<332::aid-humu16>3.0.co;2-popenalex-snapshot
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation
inferred← citeshttps://doi.org/10.1002/14651858.cd009354openalex-snapshot
Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1002/14651858.cd009354.pub4openalex-snapshot
Enzyme replacement therapy with laronidase (Aldurazyme® ) for treating mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1002/9780470987070.ch107openalex-snapshot
Hematopoietic Cell Transplantation for Storage Diseases
inferred← citeshttps://doi.org/10.1002/9781118981559.ch22openalex-snapshot
Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy
inferred← citeshttps://doi.org/10.1002/9781444314342.ch14openalex-snapshot
Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy
inferred← citeshttps://doi.org/10.1002/ajmg.a.32812openalex-snapshot
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C‐terminus of the IDUA protein
inferred← citeshttps://doi.org/10.1002/ccr3.5904openalex-snapshot
Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis
inferred← citeshttps://doi.org/10.1002/eji.200939639openalex-snapshot
Development and maturation of invariant NKT cells in the presence of lysosomal engulfment
inferred← citeshttps://doi.org/10.1002/humu.1190openalex-snapshot
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
inferred← citeshttps://doi.org/10.1002/humu.20081openalex-snapshot
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
inferred← citeshttps://doi.org/10.1002/humu.21093openalex-snapshot
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy
inferred← citeshttps://doi.org/10.1002/humu.23301openalex-snapshot
IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I
inferred← citeshttps://doi.org/10.1002/humu.9051openalex-snapshot
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
inferred← citeshttps://doi.org/10.1002/jbmr.2290openalex-snapshot
Effects of Neonatal Enzyme Replacement Therapy and Simvastatin Treatment on Cervical Spine Disease in Mucopolysaccharidosis I Dogs
inferred← citeshttps://doi.org/10.1002/jimd.12316openalex-snapshot
Novel therapies for mucopolysaccharidosis type III
inferred← citeshttps://doi.org/10.1002/mgg3.1058openalex-snapshot
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
inferred← citeshttps://doi.org/10.1002/mgg3.615openalex-snapshot
“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA ‐specific in house MLPA assay
inferred← citeshttps://doi.org/10.1007/8904_2015_485openalex-snapshot
Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity
inferred← citeshttps://doi.org/10.1007/978-0-387-68979-1_7openalex-snapshot
Hereditary Optic Neuropathies
inferred← citeshttps://doi.org/10.1007/978-1-4614-0691-4_7openalex-snapshot
Hereditary Optic Neuropathies
inferred← citeshttps://doi.org/10.1007/978-1-4614-1037-9_161openalex-snapshot
Mucopolysaccharidosis I (MPS I)
inferred← citeshttps://doi.org/10.1007/978-1-4614-6430-3_161-2openalex-snapshot
Mucopolysaccharidosis I (MPS I)
inferred← citeshttps://doi.org/10.1007/978-1-4614-8357-1_4openalex-snapshot
Leukodystrophies and Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.1007/978-1-4615-4889-8_7openalex-snapshot
Gene Therapy for Lysosomal Disorders
inferred← citeshttps://doi.org/10.1007/978-1-4939-2401-1_161openalex-snapshot
Mucopolysaccharidosis I (MPS I)
inferred← citeshttps://doi.org/10.1007/978-1-60327-161-5_128openalex-snapshot
Mucopolysaccharidosis I (MPS I) (α-L-Iduronidase Deficiency): Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) Syndromes
inferred← citeshttps://doi.org/10.1007/978-3-319-24085-5_10openalex-snapshot
Hereditary Optic Neuropathies
inferred← citeshttps://doi.org/10.1007/978-3-642-02202-9_39openalex-snapshot
Lysosomal Storage Diseases
inferred← citeshttps://doi.org/10.1007/978-3-642-56944-9_10openalex-snapshot
Das Herz bei Stoffwechselerkrankungen
inferred← citeshttps://doi.org/10.1007/bf00208355openalex-snapshot
A clinically mild case of mucopolysaccharidosis type I ?Scheie syndrome (case report)
inferred← citeshttps://doi.org/10.1007/s00112-004-0965-5openalex-snapshot
Blutstammzelltransplantation bei Mukopolysaccharidose Typ 1H (Morbus Hurler)
inferred← citeshttps://doi.org/10.1007/s002470050153openalex-snapshot
Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes
inferred← citeshttps://doi.org/10.1007/s004390100606openalex-snapshot
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
inferred← citeshttps://doi.org/10.1007/s10038-008-0272-4openalex-snapshot
Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1007/s10545-005-0197-4openalex-snapshot
Mucopolysaccharidosis I: α‐ L ‐Iduronidase mutations in three Tunisian families
inferred← citeshttps://doi.org/10.1007/s10545-009-1265-yopenalex-snapshot
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression
inferred← citeshttps://doi.org/10.1007/s10545-010-9130-6openalex-snapshot
Newborn screening for neuropathic lysosomal storage disorders
inferred← citeshttps://doi.org/10.1007/s11103-017-0673-xopenalex-snapshot
N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-l-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.1007/s11427-016-5090-xopenalex-snapshot
Regulation of lysosomal ion homeostasis by channels and transporters
inferred← citeshttps://doi.org/10.1007/s40142-026-00246-5openalex-snapshot
Molecular Genetic Investigation of Mucopolysaccharidosis 1 Disease in 10 Patients from Unrelated Pakistani Families
inferred← citeshttps://doi.org/10.1016/b978-0-323-99417-0.00002-1openalex-snapshot
Neuronopathic lysosomal storage disorders
inferred← citeshttps://doi.org/10.1016/b978-0-443-11851-7.00071-9openalex-snapshot
Cardiovascular Aspects of Systemic Disease
inferred← citeshttps://doi.org/10.1016/b978-0-7020-3064-2.00061-8openalex-snapshot
Cardiological Aspects of Systemic Disease
inferred← citeshttps://doi.org/10.1016/b978-008044859-6/50011-3openalex-snapshot
Lysosomal Degradation of Heparin and Heparan Sulfate
inferred← citeshttps://doi.org/10.1016/b978-1-4160-2447-7.50076-1openalex-snapshot
MUCOPOLYSACCHARIDOSIS IH 277.5 (Dysostosis Multiplex, Hurler Syndrome, MPS IH, Pfaundler–Hurler Syndrome)
inferred← citeshttps://doi.org/10.1016/b978-1-4160-3435-3.50019-1openalex-snapshot
Oral Manifestations of Systemic Diseases
inferred← citeshttps://doi.org/10.1016/b978-3-437-23064-6.00033-2openalex-snapshot
Skoliose und Anomalien mit generalisierter Beteiligung des Skeletts
inferred← citeshttps://doi.org/10.1016/bs.apcsb.2022.06.001openalex-snapshot
Translation termination codons in protein synthesis and disease
inferred← citeshttps://doi.org/10.1016/j.ajhg.2026.09.008openalex-snapshot
Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1016/j.arcped.2007.06.018openalex-snapshot
La mucopolysaccharidose de type I: identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes
inferred← citeshttps://doi.org/10.1016/j.bbrc.2022.10.081openalex-snapshot
Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells
inferred← citeshttps://doi.org/10.1016/j.bone.2013.03.014openalex-snapshot
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs
inferred← citeshttps://doi.org/10.1016/j.bone.2021.116237openalex-snapshot
Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I dogs
inferred← citeshttps://doi.org/10.1016/j.brainres.2006.01.008openalex-snapshot
Long-term memory for aversive training is impaired in Idua−/− mice, a genetic model of mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1016/j.cca.2009.11.027openalex-snapshot
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α-l-iduronidase mutations causing mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1016/j.cca.2013.01.009openalex-snapshot
Mucopolysaccharidosis type IIIB mutations in Chinese patients: Identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis
inferred← citeshttps://doi.org/10.1016/j.cca.2021.11.019openalex-snapshot
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
inferred← citeshttps://doi.org/10.1016/j.clinbiochem.2020.12.002openalex-snapshot
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
inferred← citeshttps://doi.org/10.1016/j.cxom.2014.05.005openalex-snapshot
Metabolic and Autoimmune Syndromes
inferred← citeshttps://doi.org/10.1016/j.genrep.2019.100488openalex-snapshot
An ultra-rare mutation (C.181C>T) in GALNS gene associated with Morquio syndrome: A case report
inferred← citeshttps://doi.org/10.1016/j.glycos.2026.100036openalex-snapshot
Advances in glycosaminoglycan based diagnostic strategies for mucopolysaccharidoses
inferred← citeshttps://doi.org/10.1016/j.heliyon.2021.e07740openalex-snapshot
Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation
inferred← citeshttps://doi.org/10.1016/j.jid.2019.04.023openalex-snapshot
Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum
inferred← citeshttps://doi.org/10.1016/j.jmb.2004.03.012openalex-snapshot
α-l-Iduronidase Premature Stop Codons and Potential Read-Through in Mucopolysaccharidosis Type I Patients
inferred← citeshttps://doi.org/10.1016/j.jns.2010.11.022openalex-snapshot
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-l-iduronidase gene
inferred← citeshttps://doi.org/10.1016/j.mattod.2025.06.020openalex-snapshot
Aptamers in drug delivery development
inferred← citeshttps://doi.org/10.1016/j.mehy.2003.12.027openalex-snapshot
A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses
inferred← citeshttps://doi.org/10.1016/j.molcel.2023.01.009openalex-snapshot
Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes
inferred← citeshttps://doi.org/10.1016/j.molmed.2006.06.001openalex-snapshot
Stop-codon read-through for patients affected by a lysosomal storage disorder
inferred← citeshttps://doi.org/10.1016/j.ymgme.2004.09.004openalex-snapshot
Prediction of neuropathology in mucopolysaccharidosis I patients
inferred← citeshttps://doi.org/10.1016/j.ymgme.2007.01.011openalex-snapshot
The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
inferred← citeshttps://doi.org/10.1016/j.ymgme.2009.08.002openalex-snapshot
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
inferred← citeshttps://doi.org/10.1016/j.ymgme.2011.07.012openalex-snapshot
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.05.016openalex-snapshot
Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.10.005openalex-snapshot
Structural and clinical implications of amino acid substitutions in α-l-iduronidase: Insight into the basis of mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.11.014openalex-snapshot
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler–Scheie syndrome
inferred← citeshttps://doi.org/10.1016/j.ymgmr.2017.06.001openalex-snapshot
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree
inferred← citeshttps://doi.org/10.1016/j.ymthe.2004.03.011openalex-snapshot
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human α-l-iduronidase gene
inferred← citeshttps://doi.org/10.1016/j.ymthe.2006.03.015openalex-snapshot
Mucopolysaccharidosis I Cats Mount a Cytotoxic T Lymphocyte Response after Neonatal Gene Therapy That Can Be Blocked with CTLA4-Ig
inferred← citeshttps://doi.org/10.1016/j.ymthe.2019.04.014openalex-snapshot
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease
inferred← citeshttps://doi.org/10.1016/s0002-9149(01)01999-3openalex-snapshot
Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the hurler syndrome
inferred← citeshttps://doi.org/10.1016/s0002-9149(03)00909-3openalex-snapshot
Usefulness of bone marrow transplantation in the Hurler syndrome
inferred← citeshttps://doi.org/10.1016/s0002-9440(10)63103-3openalex-snapshot
Retrovirally Mediated Overexpression of Versican V3 Reverses Impaired Elastogenesis and Heightened Proliferation Exhibited by Fibroblasts from Costello Syndrome and Hurler Disease Patients
inferred← citeshttps://doi.org/10.1016/s0002-9440(10)64961-9openalex-snapshot
Impaired Elastogenesis in Hurler Disease
inferred← citeshttps://doi.org/10.1016/s0009-8981(01)00593-9openalex-snapshot
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma α-l-iduronidase
inferred← citeshttps://doi.org/10.1016/s0009-8981(01)00811-7openalex-snapshot
Effect of CuCl2, NaCl and EDTA on the enzyme α-l-iduronidase in the plasma of normal individuals and heterozygotes for MPS I
inferred← citeshttps://doi.org/10.1016/s0022-3476(98)70201-xopenalex-snapshot
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
inferred← citeshttps://doi.org/10.1016/s0167-4781(01)00267-6openalex-snapshot
The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein
inferred← citeshttps://doi.org/10.1016/s0181-5512(07)89568-4openalex-snapshot
Un point d’appel ophtalmologique à l’origine du diagnostic de deux cas de mucopolysaccharidose
inferred← citeshttps://doi.org/10.1016/s0188-4409(01)00334-4openalex-snapshot
Detection of Mucopolysaccharidosis Type I Heterozygotes Based on the Biochemical Characteristics of Leukocyte α-L-Iduronidase
inferred← citeshttps://doi.org/10.1016/s0888-7543(02)00014-9openalex-snapshot
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
inferred← citeshttps://doi.org/10.1016/s0925-4439(03)00129-7openalex-snapshot
The α-l-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation
inferred← citeshttps://doi.org/10.1016/s0925-4439(98)00046-5openalex-snapshot
Genotype–phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
inferred← citeshttps://doi.org/10.1016/s0929-693x(14)72255-9openalex-snapshot
Génétique des mucopolysaccharidoses
inferred← citeshttps://doi.org/10.1016/s1096-7192(02)00200-7openalex-snapshot
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
inferred← citeshttps://doi.org/10.1016/s1096-7192(03)00116-1openalex-snapshot
Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow
inferred← citeshttps://doi.org/10.1016/s1472-6483(10)60864-4openalex-snapshot
First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1023/a:1005525931994openalex-snapshot
Long‐term follow‐up following bone marrow transplantation for Hunter disease
inferred← citeshttps://doi.org/10.1023/a:1012419823739openalex-snapshot
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?
inferred← citeshttps://doi.org/10.1034/j.1399-0004.1999.560109.xopenalex-snapshot
Mucopolysaccharidosis type I: Characterization of novel mutations affecting α‐ l ‐iduronidase activity
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2000.570207.xopenalex-snapshot
Identification and characterization of ‐3c–g acceptor splice site mutation in human α‐ l ‐iduronidase associated with mucopolysaccharidosis type IH/S
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2001.600513.xopenalex-snapshot
The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years
inferred← citeshttps://doi.org/10.1038/bmt.2009.319openalex-snapshot
Pre-transplant risk factors affecting outcome in Hurler syndrome
inferred← citeshttps://doi.org/10.1038/gt.2013.14openalex-snapshot
Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice
inferred← citeshttps://doi.org/10.1038/mtm.2014.68openalex-snapshot
A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1038/sj.bmt.1704105openalex-snapshot
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
inferred← citeshttps://doi.org/10.1038/sj.bmt.1704786openalex-snapshot
Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler)
inferred← citeshttps://doi.org/10.1046/j.1432-1033.2002.02951.xopenalex-snapshot
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors
inferred← citeshttps://doi.org/10.1046/j.1523-1747.2002.19637.xopenalex-snapshot
Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum
inferred← citeshttps://doi.org/10.1055/s-0039-1685190openalex-snapshot
A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report
inferred← citeshttps://doi.org/10.1056/nejm200101183440304openalex-snapshot
Enzyme-Replacement Therapy in Mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.1074/jbc.272.36.22758openalex-snapshot
Carbohydrate Structures of Recombinant Human α-l-Iduronidase Secreted by Chinese Hamster Ovary Cells
inferred← citeshttps://doi.org/10.1080/08035250510031584openalex-snapshot
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1080/13816810.2025.2536658openalex-snapshot
Honoring Professor Andreas Gal
inferred← citeshttps://doi.org/10.1080/21678707.2020.1715208openalex-snapshot
The potential of gene therapy for mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.1089/104303402760372918openalex-snapshot
In Utero Injection of α -L-Iduronidase-Carrying Retrovirus in Canine Mucopolysaccharidosis Type I: Infection of Multiple Tissues and Neonatal Gene Expression
inferred← citeshttps://doi.org/10.1089/10430349950017158openalex-snapshot
Enzymatic Correction and Cross-Correction of Mucopolysaccharidosis Type I Fibroblasts by Adeno-Associated Virus-Mediated Transduction of the alpha-L-Iduronidase Gene
inferred← citeshttps://doi.org/10.1089/10430349950017851openalex-snapshot
Gene Therapy for Canine alpha-L-Iduronidase Deficiency: In Utero Adoptive Transfer of Genetically Corrected Hematopoietic Progenitors Results in Engraftment but Not Amelioration of Disease
inferred← citeshttps://doi.org/10.1089/gtmb.2009.0057openalex-snapshot
Mutational Analysis of the α-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms
inferred← citeshttps://doi.org/10.1089/hum.1996.7.13-1595openalex-snapshot
Myoblast Gene Therapy in Canine Mucopolysaccharidosis I: Abrogation by an Immune Response to α - l -Iduronidase
inferred← citeshttps://doi.org/10.1089/hum.2005.16.81openalex-snapshot
Gene Therapy for a Mucopolysaccharidosis Type I Murine Model with Lentiviral-IDUA Vector
inferred← citeshttps://doi.org/10.1089/hum.2017.187openalex-snapshot
Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I
inferred← citeshttps://doi.org/10.1093/acprof:oso/9780198508786.003.0004openalex-snapshot
Primary defects in lysosomal enzymes
inferred← citeshttps://doi.org/10.1093/glycob/11.9.741openalex-snapshot
Glycosidase active site mutations in human -L-iduronidase
inferred← citeshttps://doi.org/10.1093/hmg/6.4.503openalex-snapshot
Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene
inferred← citeshttps://doi.org/10.1093/hmg/6.9.1573openalex-snapshot
Novel mutations in Sanfilippo A syndrome: implications for enzyme function
inferred← citeshttps://doi.org/10.1093/hmg/ddy259openalex-snapshot
Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.1093/rheumatology/ker394openalex-snapshot
Overview of the mucopolysaccharidoses
inferred← citeshttps://doi.org/10.1097/00125817-200211000-00004openalex-snapshot
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
inferred← citeshttps://doi.org/10.1097/01.gim.0000078027.83236.49openalex-snapshot
Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature
inferred← citeshttps://doi.org/10.1107/s1744309112040432openalex-snapshot
Crystallization, X-ray diffraction analysis and SIRAS phasing of human α- L -iduronidase
inferred← citeshttps://doi.org/10.1111/age.13015openalex-snapshot
Resequencing and signatures of selection scan in two Siberian native sheep breeds point to candidate genetic variants for adaptation and economically important traits
inferred← citeshttps://doi.org/10.1111/ahg.12236openalex-snapshot
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS‐7 cells
inferred← citeshttps://doi.org/10.1111/cge.13583openalex-snapshot
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
inferred← citeshttps://doi.org/10.1111/echo.13444openalex-snapshot
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two‐dimensional speckle tracking echocardiography study
inferred← citeshttps://doi.org/10.1111/j.1399-0004.1998.tb02745.xopenalex-snapshot
Murine MPS I: insights into the pathogenesis of Hurler syndrome
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2011.01680.xopenalex-snapshot
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
inferred← citeshttps://doi.org/10.1111/j.1750-3639.1998.tb00145.xopenalex-snapshot
Mouse Models of Human Lysosomal Diseases
inferred← citeshttps://doi.org/10.1111/jcmm.71396openalex-snapshot
Molecular Dynamics Reveals a Glycan Conformation Underlying IDUA Dysfunction in Attenuated MPS I
inferred← citeshttps://doi.org/10.1136/adc.76.2.92openalex-snapshot
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
inferred← citeshttps://doi.org/10.1136/bcr-2016-215416openalex-snapshot
Mucopolysaccharidosis type I disguised as rickets
inferred← citeshttps://doi.org/10.1136/bcr-2017-221156openalex-snapshot
Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia
inferred← citeshttps://doi.org/10.1136/bcr-2024-264555openalex-snapshot
Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis
inferred← citeshttps://doi.org/10.1136/jmg.34.11.939openalex-snapshot
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
inferred← citeshttps://doi.org/10.1136/jmg.34.2.105openalex-snapshot
Fucosidosis: genetic and biochemical analysis of eight cases.
inferred← citeshttps://doi.org/10.1136/jmg.36.1.28openalex-snapshot
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
inferred← citeshttps://doi.org/10.1136/vetreccr-2015-000274openalex-snapshot
Generalised vertebral abnormalities in a Rhodesian ridgeback with a lysosomal storage disease
inferred← citeshttps://doi.org/10.1146/annurev-med-050715-104432openalex-snapshot
Lysosomal Proteins as a Therapeutic Target in Neurodegeneration
inferred← citeshttps://doi.org/10.1177/088307380201700214openalex-snapshot
Hurler's Syndrome, West's Syndrome, and Vitamin D-Dependent Rickets
inferred← citeshttps://doi.org/10.1186/1746-1596-6-39openalex-snapshot
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
inferred← citeshttps://doi.org/10.1186/1746-1596-6-47openalex-snapshot
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
inferred← citeshttps://doi.org/10.1186/s12864-024-10724-1openalex-snapshot
Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa
inferred← citeshttps://doi.org/10.1186/s12881-016-0319-xopenalex-snapshot
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.1186/s12886-020-01689-2openalex-snapshot
Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty
inferred← citeshttps://doi.org/10.1186/s13000-018-0710-3openalex-snapshot
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
inferred← citeshttps://doi.org/10.1186/s13023-016-0478-zopenalex-snapshot
Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children
inferred← citeshttps://doi.org/10.1186/s13052-018-0553-2openalex-snapshot
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
inferred← citeshttps://doi.org/10.1201/b13564-87openalex-snapshot
Hurler disease/mucopolysaccharidosis type IHa- L-iduronidase deficiency
inferred← citeshttps://doi.org/10.1203/01.pdr.0000141987.69757.ddopenalex-snapshot
Disease-Specific Markers for the Mucopolysaccharidoses
inferred← citeshttps://doi.org/10.14295/rp.v55i4.187openalex-snapshot
Mucopolisacaridosis tipo I, variante síndrome de Hurler: Abordaje inicial y relación con la literatura
inferred← citeshttps://doi.org/10.1517/14712598.2.8.967openalex-snapshot
α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.1542/peds.2008-0416openalex-snapshot
Mucopolysaccharidosis I: Management and Treatment Guidelines
inferred← citeshttps://doi.org/10.1542/peds.2009-2047openalex-snapshot
Fatal Coronary Artery Disease in an Infant With Severe Mucopolysaccharidosis Type I
inferred← citeshttps://doi.org/10.1586/eem.11.72openalex-snapshot
Laronidase for the treatment of mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.2144/03351dd01openalex-snapshot
Clinical development of therapeutic recombinant proteins
inferred← citeshttps://doi.org/10.2147/btt.s3180openalex-snapshot
α-L-iduronidase therapy for mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.2165/00003495-200767180-00005openalex-snapshot
Treatment of Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.2165/00063030-200519010-00001openalex-snapshot
Laronidase Treatment of Mucopolysaccharidosis I
inferred← citeshttps://doi.org/10.2478/rrlm-2020-0030openalex-snapshot
Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients
inferred← citeshttps://doi.org/10.2484/rcr.v7i2.641openalex-snapshot
Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
inferred← citeshttps://doi.org/10.31274/etd-180810-308openalex-snapshot
Enzyme replacement therapy treatment from birth increases therapeutic efficacy and generates tolerance to enzyme in canine mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.32708/uutfd.833998openalex-snapshot
Mukopolisakkaridoz Hastalarının Geriye Yönelik Olarak Değerlendirilmesi: Tek Merkez Deneyimi
inferred← citeshttps://doi.org/10.3389/fgene.2024.1377743openalex-snapshot
The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis
inferred← citeshttps://doi.org/10.3389/fmolb.2021.783644openalex-snapshot
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology
inferred← citeshttps://doi.org/10.3390/ijms21249449openalex-snapshot
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
inferred← citeshttps://doi.org/10.3390/jcm8122190openalex-snapshot
Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.3390/life11111162openalex-snapshot
Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
inferred← citeshttps://doi.org/10.3906/sag-1411-160openalex-snapshot
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
inferred← citeshttps://doi.org/10.4081/cardiogenetics.2013.s1.e2openalex-snapshot
Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses
inferred← citeshttps://doi.org/10.4103/0976-237x.79287openalex-snapshot
Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report
inferred← citeshttps://doi.org/10.4238/gmr16032602openalex-snapshot
Research Article Clinical features of Mexican patients with Mucopolysaccharidosis type I.
inferred← citeshttps://doi.org/10.46531/sinapse/cc/210086/2022openalex-snapshot
Mucopolysaccharidosis Type I, Hematopoietic Cell Transplantation and Neurodevelopmental Profile: A Case Report
inferred← citeshttps://doi.org/10.5897/ajpp12.134openalex-snapshot
Mucopolysaccharidosis type I: Homology modeling and docking analysis of the lysosomal enzyme, human α-L-iduronidase
inferred← citeshttps://doi.org/10.7439/ijbar.v5i4.683openalex-snapshot
Hurler-Scheie syndrome with subclinical hypothyroidism: A case report
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