IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I-Reference-Cited by-同舟云学术

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IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

Published:2017-08-17 Issue:11 Volume:38 Page:1555-1568
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ghosh Arunabha¹²^ORCID,Mercer Jean¹,Mackinnon Sabrina³,Yue Wyatt W³,Church Heather¹,Beesley Clare E⁴,Broomfield Alex¹,Jones Simon A¹,Tylee Karen¹

Affiliation:

1. Manchester Centre for Genomic Medicine St Mary's Hospital Manchester Academic Health Science Centre (MAHSC) Manchester UK

2. School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester Manchester UK

3. Structural Genomics Consortium, Nuffield Department of Medicine University of Oxford London UK

4. North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23301

Reference40 articles.

1. A method and server for predicting damaging missense mutations

2. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

3. The natural history of MPS I: global perspectives from the MPS I Registry

4. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

5. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

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1. Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening;Frontiers in Pediatrics;2024-07-15

2. Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience;Journal of Inborn Errors of Metabolism and Screening;2024

3. Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function;Molecular Genetics and Metabolism;2023-11

4. Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review;Genes;2022-07-22

5. Integrated Analysis of Energy Metabolism Signature-Identified Distinct Subtypes of Bladder Urothelial Carcinoma;Frontiers in Cell and Developmental Biology;2022-02-23

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