Epidemiology of Mucopolysaccharidoses Update

Estimated birth prevalence of mucopolysaccharidoses in Brazil

(2020) Andressa Federhen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

(2020) Francesca D’Avanzo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

(2020) Yin-Hsiu Chien et al.   Orphanet Journal of Rare Diseases

Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

(2020) Maria Francisca Coutinho et al.   Diagnostics

Diagnosis of Mucopolysaccharidoses

(2020) Francyne Kubaski et al.   Diagnostics

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

(2020) Rajendra Singh et al.   Diagnostics

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

(2020) Karolina Pierzynowska et al.   Molecular Genetics & Genomic Medicine

Newborn screening for mucopolysaccharidosis type II (MPS II) in Illinois: The first year's experience

(2019) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses

(2019) Srilatha Kadali et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

(2019) Madeleine Taylor et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI

(2019) Majid Aminzadeh et al.   GENE

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

(2019) Carla Martins et al.   HUMAN MUTATION

Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations

(2019) Mehdi Shafaat et al.   METABOLIC BRAIN DISEASE

Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis

(2019) Arun Babu Kumar et al.   MOLECULAR GENETICS AND METABOLISM

IDUA gene mutations in mucopolysaccharidosis type‐1 patients from two Pakistani inbred families

(2019) Rutaba Gul et al.   CONGENITAL ANOMALIES

Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations

(2019) Mana Kamranjam et al.   Genetic Testing and Molecular Biomarkers

Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

(2019) Mohammad Taghikhani et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1

(2019) Muhammad Yasir Zahoor et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

(2019) Himani Tanwar et al.   METABOLIC BRAIN DISEASE

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

(2019) Patricia Dubot et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

(2019) Chenxi Yang et al.   MEDICAL SCIENCE MONITOR

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

(2019) Lin et al.   Diagnostics

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

(2019) Hsiang-Yu Lin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

(2019) Clifford Ronald Scott et al.   JOURNAL OF PEDIATRICS

Worldwide distribution of common IDUA pathogenic variants

(2018) E. Poletto et al.   CLINICAL GENETICS

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

(2018) Latifa Chkioua et al.   Diagnostic Pathology

Clinical presentation and diagnosis of mucopolysaccharidoses

(2018) Molly Stapleton et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy for Mucopolysaccharidoses

(2018) Kazuki Sawamoto et al.   MOLECULAR GENETICS AND METABOLISM

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

(2018) Chih-Kuang Chuang et al.   Orphanet Journal of Rare Diseases

Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

(2018) Patrick V. Hopkins et al.   JAMA Pediatrics

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period

(2018) Hsiang-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

(2018) Hsiang-Yu Lin et al.   Molecular Genetics & Genomic 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

Precision newborn screening for lysosomal disorders

(2017) Melissa M Minter Baerg et al.   GENETICS IN MEDICINE

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

(2017) Alberto B. Burlina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

(2017) Qingwen Zeng et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

(2017) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

Epidemiology of mucopolysaccharidoses

(2017) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

Epidemiology of mucopolysaccharidoses (MPS) in the United States: challenges and opportunities

(2017) Yana Puckett et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system

(2017) Juana Inés Navarrete-Martínez et al.   MOLECULAR GENETICS AND METABOLISM

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

(2017) Francyne Kubaski et al.   PRENATAL DIAGNOSIS

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations

(2017) Souad Ouesleti et al.   World Journal of Pediatrics

Newborn Screening: From Guthrie to Whole Genome Sequencing

(2017) Michele Caggana et al.   PUBLIC HEALTH REPORTS

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

Hunter syndrome in northern India: Clinical features and mutation spectrum

(2016) Dhanya Lakshmi Narayanan et al.   INDIAN PEDIATRICS

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia

(2016) Harvy Mauricio Velasco et al.   JOURNAL OF CHILD NEUROLOGY

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

(2016) Xueru Chen et al.   JOURNAL OF HUMAN GENETICS

The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses

(2016) Ali Al Kaissi et al.   MEDICINE

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

(2016) Susan Elliott et al.   MOLECULAR GENETICS AND METABOLISM

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

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

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

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

(2015) Wei-De Lin et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

GALNSmutations in Indian patients with mucopolysaccharidosis IVA

(2014) Abdul Mueed Bidchol et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

(2014) Fabiana Moura Costa-Motta et al.   HUMAN HEREDITY

Morquio A Syndrome-Associated Mutations: A Review of Alterations in theGALNSGene and a New Locus-Specific Database

(2014) Amelia Morrone et al.   HUMAN MUTATION

Prevalence rates of mucopolysaccharidoses in Poland

(2014) Agnieszka Jurecka et al.   JOURNAL OF APPLIED 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

The incidence of mucopolysaccharidoses and related disorders in the Turkish population: A 3 year study

(2013) Heather Church et al.   MOLECULAR GENETICS AND METABOLISM

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

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

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

(2013) Agnieszka Jurecka et al.   PEDIATRICS INTERNATIONAL

First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

(2012) Silvia Paciotti et al.   CLINICA CHIMICA ACTA

The Live-Birth Prevalence of Mucopolysaccharidoses in Estonia

(2012) Külliki Krabbi et al.   Genetic Testing and Molecular Biomarkers

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

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

A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II

(2012) Xiao-Yan Li et al.   World Journal of Pediatrics

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

(2012) Hee Jae Huh et al.   Annals of Laboratory Medicine

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

(2011) X Wang et al.   CLINICAL GENETICS

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

(2011) YB Sohn 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

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

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis

(2011) Lisa Imundo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

(2011) Mahoko Furujo et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

(2011) Minke H de Ru et al.   Orphanet Journal of Rare Diseases

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

(2011) Huiwen Zhang et al.   PLoS One

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line

(2011) Gheona Altarescu et al.   PRENATAL DIAGNOSIS

Diagnosis of the mucopolysaccharidoses

(2011) T. J. A. Lehman et al.   RHEUMATOLOGY

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

(2010) Bénédicte Héron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

(2010) Hissa Moammar et al.   ANNALS OF SAUDI MEDICINE

Clinical and molecular analysis of a Japanese boy with Morquio B disease

(2010) Nozomi Ishii et al.   CLINICAL GENETICS

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

(2009) Hsiang-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

(2009) Shunji Tomatsu et al.   HUMAN MUTATION

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

(2009) Matthew Feldhammer et al.   HUMAN MUTATION

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

(2008) Gunilla Malm et al.   ACTA PAEDIATRICA

Novel β‐galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

(2008) Zoran S. Gucev et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

(2008) Wei-De Lin et al.   CLINICA CHIMICA ACTA

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

(2008) David Moore et al.   Orphanet Journal of Rare Diseases

Preimplantation genetic diagnosis of Morquio disease

(2008) Wafa Qubbaj et al.   PRENATAL DIAGNOSIS

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

(2007) G.J.G. Ruijter et al.   MOLECULAR GENETICS AND METABOLISM