Research graph
References from Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I. Local targets link to admitted publications; unresolved targets remain external evidence.
The mucopolysaccharidoses
2001 · External reference
Mucopolysaccharidoses and the eye
10.1016/j.survophthal.2005.11.007 · 2006 · External reference
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
10.1097/01.gim.0000078027.83236.49 · 2003 · External reference
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
10.1007/s10545-010-9113-7 · 2010 · External reference
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
10.1111/cge.13583 · 2019 · External reference
Unresolved reference
External reference
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
10.1038/s41525-021-00261-1 · 2021 · External reference
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
10.1038/ejhg.2017.9 · 2017 · External reference
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
10.1038/s41525-024-00439-3 · 2024 · External reference
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)
10.1016/j.gim.2021.09.015 · 2022 · External reference
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
10.1016/j.jpeds.2017.06.048 · 2017 · External reference
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
10.1007/s004390100606 · 2001 · External reference
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene
10.1002/humu.1380060119 · 1995 · External reference
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
10.1002/humu.23301 · 2017 · External reference
Mutations among Italian mucopolysaccharidosis type I patients
10.1023/a:1005323918923 · 1997 · External reference
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121
10.1002/(sici)1098-1004(1998)11:4<332::aid-humu16>3.0.co;2-p · 1998 · External reference
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
10.1007/s10545-012-9533-7 · 2013 · External reference
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles
10.1002/humu.21479 · 2011 · External reference
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations
10.1002/humu.1380030316 · 1994 · External reference
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
10.1002/humu.1380010204 · 1992 · External reference
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein
10.1002/ajmg.a.32812 · 2009 · External reference
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union
10.1006/mgme.1998.2745 · 1998 · External reference
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
10.1111/cge.12795 · 2016 · External reference
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
10.1016/j.clinbiochem.2020.12.002 · 2021 · External reference
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
10.1016/j.ymgme.2013.11.014 · 2014 · External reference
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
10.1186/1750-1172-8-99 · 2013 · External reference
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
10.1002/humu.9051 · 2002 · External reference
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
10.1016/s1096-7192(02)00200-7 · 2003 · External reference
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
10.1007/s00431-019-03341-8 · 2019 · External reference
Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
10.1016/j.ymgme.2013.05.016 · 2013 · External reference
Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical, and biological implications
10.1002/humu.1380060403 · 1995 · External reference
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
10.1002/humu.1380010412 · 1992 · External reference
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
10.1007/s00439-021-02303-1 · 2022 · External reference
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
10.1136/jmedgenet-2021-108065 · 2022 · External reference
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel
10.1016/j.ymgme.2026.110156 · 2026 · External reference
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)
10.1002/humu.1380060111 · 1995 · External reference
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
10.1038/s41525-024-00457-1 · 2024 · External reference
Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A
10.1007/s00417-015-2953-y · 2015 · External reference
Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes
10.1007/s10633-007-9047-z · 2007 · External reference
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report
2023 · External reference
Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I
2026 · External reference
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
10.1136/jmg-2023-109470 · 2024 · External reference
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
10.1016/j.ymgme.2007.01.011 · 2007 · External reference
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
10.1371/journal.pone.0138622 · 2015 · External reference
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders
10.3390/genes16080915 · 2025 · External reference
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency
1996 · External reference
“Pseudodeficiencies” of lysosomal hydrolases
1994 · External reference
Genomic newborn screening for rare diseases
10.1038/s41576-023-00621-w · 2023 · External reference
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
10.1007/s00439-013-1381-5 · 2014 · External reference
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
10.1016/j.ophtha.2014.07.040 · 2015 · External reference
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
10.1002/ajmg.c.31822 · 2020 · External reference
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
10.1186/s13023-019-1232-0 · 2019 · External reference
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
10.1111/cge.14573 · 2024 · External reference
Energy metabolism of the visual system
10.2147/eb.s9078 · 2010 · External reference
Current and new therapies for mucopolysaccharidoses
10.1016/j.pedneo.2022.10.001 · 2023 · External reference
