Literature DB >> 14608657

Incidence of the mucopolysaccharidoses in Western Australia.

John Nelson1, June Crowhurst, Bill Carey, Lawrence Greed.   

Abstract

An epidemiological study of the mucopolysaccharidoses in Western Australia (WA) using multiple ascertainment sources was carried out and the incidence rate for the period 1969-1996 was estimated. An incidence of approximately 1 in 107,000 live births was obtained for MPS IH (Hurler phenotype); 1 in 320,000 live births (1 in 165,000 male live births) for MPS II (Hunter Syndrome); 1 in 58,000 for MPS III (Sanfilippo Syndrome); 1 in 640,000 for MPS IVA (Morquio Syndrome type A), and 1 in 320,000 for MPS VI (Maroteaux-Lamy Syndrome). The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 29,000 live births. A comparison is made with incidence estimates obtained from other published studies. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID: 14608657     DOI: 10.1002/ajmg.a.20314

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  66 in total

1.  Cumulative incidence rates of the mucopolysaccharidoses in Germany.

Authors:  F Baehner; C Schmiedeskamp; F Krummenauer; E Miebach; M Bajbouj; C Whybra; A Kohlschütter; C Kampmann; M Beck
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 2.  The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.

Authors:  Robert P Erickson; N Avrion Mitchison
Journal:  J Appl Genet       Date:  2014-03-21       Impact factor: 3.240

3.  Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

Authors:  Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera
Journal:  JIMD Rep       Date:  2013-02-02

4.  Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Authors:  Stuart A Scott; Benny Liu; Irina Nazarenko; Suparna Martis; Julia Kozlitina; Yao Yang; Charina Ramirez; Yumi Kasai; Tommy Hyatt; Inga Peter; Robert J Desnick
Journal:  Hepatology       Date:  2013-07-29       Impact factor: 17.425

5.  Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.

Authors:  Tsutomu Shimada; Joan Kelly; William A LaMarr; Naomi van Vlies; Eriko Yasuda; Robert W Mason; William Mackenzie; Francyne Kubaski; Roberto Giugliani; Yasutsugu Chinen; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji E Orii; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2014-07-21       Impact factor: 4.797

Review 6.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

Review 7.  Mucopolysaccharidosis VI.

Authors:  Vassili Valayannopoulos; Helen Nicely; Paul Harmatz; Sean Turbeville
Journal:  Orphanet J Rare Dis       Date:  2010-04-12       Impact factor: 4.123

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

Authors:  Helena Poupetová; Jana Ledvinová; Linda Berná; Lenka Dvoráková; Viktor Kozich; Milan Elleder
Journal:  J Inherit Metab Dis       Date:  2010-05-20       Impact factor: 4.982

Review 9.  Newborn screening and diagnosis of mucopolysaccharidoses.

Authors:  Shunji Tomatsu; Tadashi Fujii; Masaru Fukushi; Toshihiro Oguma; Tsutomu Shimada; Miho Maeda; Kazuhiro Kida; Yuniko Shibata; Hideyuki Futatsumori; Adriana M Montaño; Robert W Mason; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-21       Impact factor: 4.797

10.  Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Authors:  Vũ Chí Dũng; Shunji Tomatsu; Adriana M Montaño; Gary Gottesman; Michael B Bober; William Mackenzie; Miho Maeda; Grant A Mitchell; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-26       Impact factor: 4.797

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