Abstract
No public abstract is available from the verified source records.
Siying Lin, Seok-Ho Yu, Andrew C. Browning, Riccardo Sangermano, Andrzej B. Poplawski, Karolina M. Stepien, Peter Kiraly, Anna R. Ridgeway, Patrick Rump, Marianthi Karali, Francesca Simonelli, Laura K. Finnegan, G. Jane Farrar, Naomi Chadderton, Paul F. Kenna, Emma Duignan, Eleanor McCance, M. Dominik Fischer, Robin Lachmann, Yael Finezilber, Shaun M. Leo, Anthony G. Robson, Nishan Guha, Elaine Murphy, Kim Rodenburg, Aleksandr Jestin, Lonneke Haer-Wigman, Jan Willem R. Pott, Marlies M.B. Habing, Emily M. Place, Rachel M. Huckfeldt, Sandro Banfi, Marcela Votruba, Kinga M. Bujakowska, Heather Flanagan-Steet, Omar A. Mahroo, Andrew R. Webster, Susanne Roosing, Richard Steet, Gavin Arno
Abstract
Authors
Institutions
No ROR-resolved institution is linked to this work yet.
Provenance
crossref
Confidence 100%
unpaywall
Confidence 95%
datacite
Confidence 0%
No local reference links have been materialized yet.
No local citing links have been materialized yet.
The mucopolysaccharidoses
2001
Mucopolysaccharidoses and the eye
10.1016/j.survophthal.2005.11.007 · 2006
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
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
10.1007/s10545-010-9113-7 · 2010
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
10.1111/cge.13583 · 2019
Unresolved referenced work
Kept as external metadata until matched
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
10.1038/s41525-021-00261-1 · 2021
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
10.1038/ejhg.2017.9 · 2017
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
10.1038/s41525-024-00439-3 · 2024
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
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
10.1016/j.jpeds.2017.06.048 · 2017
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
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene
10.1002/humu.1380060119 · 1995
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
10.1002/humu.23301 · 2017
Mutations among Italian mucopolysaccharidosis type I patients
10.1023/a:1005323918923 · 1997
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
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
10.1007/s10545-012-9533-7 · 2013
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
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations
10.1002/humu.1380030316 · 1994
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
10.1002/humu.1380010204 · 1992
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
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union
10.1006/mgme.1998.2745 · 1998
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
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
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
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
10.1186/1750-1172-8-99 · 2013
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
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
10.1016/s1096-7192(02)00200-7 · 2003
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
10.1007/s00431-019-03341-8 · 2019
Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
10.1016/j.ymgme.2013.05.016 · 2013
Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical, and biological implications
10.1002/humu.1380060403 · 1995
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
10.1002/humu.1380010412 · 1992
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
10.1007/s00439-021-02303-1 · 2022
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
10.1136/jmedgenet-2021-108065 · 2022
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
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S)
10.1002/humu.1380060111 · 1995
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
10.1038/s41525-024-00457-1 · 2024
Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A
10.1007/s00417-015-2953-y · 2015
Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes
10.1007/s10633-007-9047-z · 2007
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report
2023
Current and new therapies for mucopolysaccharidoses
10.1016/j.pedneo.2022.10.001 · doi-reference
Energy metabolism of the visual system
10.2147/eb.s9078 · doi-reference
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
10.1111/cge.14573 · doi-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 · doi-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 · doi-reference
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
10.1016/j.ophtha.2014.07.040 · doi-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 · doi-reference
Genomic newborn screening for rare diseases
10.1038/s41576-023-00621-w · doi-reference
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders
10.3390/genes16080915 · doi-reference
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
10.1371/journal.pone.0138622 · doi-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 · doi-reference
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
10.1136/jmg-2023-109470 · doi-reference