Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
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Title
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-06-13
DOI
10.1111/cge.13583
References
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Related references
Note: Only part of the references are listed.- Worldwide distribution of common IDUA pathogenic variants
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- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
- (2018) Rossella Parini et al. ACTA PAEDIATRICA
- The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
- (2018) Melissa P. Wasserstein et al. GENETICS IN MEDICINE
- Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
- (2018) Min-Ju Chan et al. JOURNAL OF PEDIATRICS
- IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
- (2017) Arunabha Ghosh et al. HUMAN MUTATION
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
- (2017) Barbara K. Burton et al. JOURNAL OF PEDIATRICS
- Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
- (2017) Lorne A. Clarke et al. JOURNAL OF PEDIATRICS
- Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
- (2017) Li Ou et al. Orphanet Journal of Rare Diseases
- Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
- (2015) M. Aldenhoven et al. BLOOD
- The natural history of MPS I: global perspectives from the MPS I Registry
- (2014) Michael Beck et al. GENETICS IN MEDICINE
- Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase
- (2013) Haiying Bie et al. Nature Chemical Biology
- An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
- (2013) Sandra DK Kingma et al. Orphanet Journal of Rare Diseases
- Human α-l-iduronidase uses its ownN-glycan as a substrate-binding and catalytic module
- (2013) Nobuo Maita et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry
- (2012) Kristin D’Aco et al. EUROPEAN JOURNAL OF PEDIATRICS
- 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
- (2011) Francesca Bertola et al. HUMAN MUTATION
- Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I
- (2008) L. A. Clarke et al. PEDIATRICS
- Mucopolysaccharidosis I: Management and Treatment Guidelines
- (2008) J. Muenzer et al. PEDIATRICS
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