Worldwide distribution of common IDUA pathogenic variants

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

(2016) Min Jung Kwak et al.   BMC Medical Genetics

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

(2016) Orazio Gabrielli et al.   BMC Medical Genetics

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

(2016) A. Uttarilli et al.   CLINICAL GENETICS

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres

(2016) Arunabha Ghosh et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

(2016) Nazente ATÇEKEN et al.   Turkish Journal Of Medical Sciences

Neonatal Screening for Inherited Metabolic Diseases in 2016

(2016) Judit Garcia Villoria et al.   Seminars in Pediatric Neurology

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

(2015) Emily C. Lisi et al.   Journal of Genetic Counseling

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

Quantitating and Dating Recent Gene Flow between European and East Asian Populations

(2015) Pengfei Qin et al.   Scientific Reports

Early treatment is associated with improved cognition in Hurler syndrome

(2014) Michele D. Poe et al.   ANNALS OF NEUROLOGY

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia

(2014) Dimitry A. Chistiakov et al.   CLINICA CHIMICA ACTA

Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan

(2014) Hsuan-Chieh Liao et al.   CLINICA CHIMICA ACTA

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

(2014) Michael Beck et al.   GENETICS IN MEDICINE

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

(2013) J. J. Boelens et al.   BLOOD

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

(2013) S. Fahiminiya et al.   CLINICAL GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

(2013) C. Ronald Scott et al.   JOURNAL OF PEDIATRICS

Structural and clinical implications of amino acid substitutions in α-l-iduronidase: Insight into the basis of mucopolysaccharidosis type I

(2013) Seiji Saito et al.   MOLECULAR GENETICS AND METABOLISM

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

(2013) Haiying Bie et al.   Nature Chemical Biology

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

(2013) Shuan-Pei Lin et al.   Orphanet Journal of Rare Diseases

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe

(2013) L. R. Botigue 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

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

(2012) Laura M. Pollard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

(2011) X Wang et al.   CLINICAL GENETICS

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

(2011) Latifa Chkioua et al.   Diagnostic Pathology

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

(2011) Latifa Chkioua et al.   Diagnostic Pathology

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

(2011) Luning Sun et al.   GENETICS AND MOLECULAR BIOLOGY

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

(2011) Raymond Y Wang et al.   GENETICS IN MEDICINE

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

The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected

(2011) Sérgio D. J. Pena et al.   PLoS One

Gene Flow between the Korean Peninsula and Its Neighboring Countries

(2010) Jongsun Jung et al.   PLoS One

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

(2009) Alzbeta Vazna et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

(2008) S. Blanchard et al.   CLINICAL CHEMISTRY

Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy

(2007) Vanessa Gonçalves Pereira et al.   CLINICA CHIMICA ACTA