Literature DB >> 2118475

An update on the frequency of mucopolysaccharide syndromes in British Columbia.

R B Lowry, D A Applegarth, J R Toone, E MacDonald, N Y Thunem.   

Abstract

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Year:  1990        PMID： 2118475     DOI： 10.1007/bf00206770

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  4 in total

1.  Measuring birth defects and handicapping disorders in the population: the British Columbia Health Surveillance Registry.

Authors:  P A Baird
Journal:  CMAJ       Date:  1987-01-15       Impact factor: 8.262

2.  Relative frequency of the Hurler and Hunter syndromes.

Authors:  R B Lowry; D H Renwick
Journal:  N Engl J Med       Date:  1971-01-28       Impact factor: 91.245

3.  Incidence of Hunter's syndrome.

Authors:  I D Young; P S Harper
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?

Authors:  T Schaap; G Bach
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  4 in total
  23 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.  Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

Authors:  Marianne Rohrbach; Joe T R Clarke
Journal:  Drugs       Date:  2007       Impact factor: 9.546

3.  Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Authors:  Shunji Tomatsu; Adriana M Montaño; Hirotaka Oikawa; Vu Chi Dung; Amiko Hashimoto; Toshihiro Oguma; Monica L Gutiérrez; Tatsuo Takahashi; Tsutomu Shimada; Tadao Orii; William S Sly
Journal:  Mol Genet Metab       Date:  2014-06-04       Impact factor: 4.797

4.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

Review 5.  Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms.

Authors:  Derbis Campos; Madelyn Monaga
Journal:  Metab Brain Dis       Date:  2012-04-14       Impact factor: 3.584

6.  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

7.  Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Authors:  B Weber; J J van de Kamp; W J Kleijer; X H Guo; L Blanch; O P van Diggelen; R Wevers; B J Poorthuis; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 8.  Mucopolysaccharidosis VI.

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

9.  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

10.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025
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