Literature DB >> 1456282

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.

M Stangenberg1, G Lingman, G Roberts, P Ozand.   

Abstract

We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal.

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Year:  1992        PMID： 1456282     DOI： 10.1002/ajmg.1320440205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Non-immune fetal hydrops: Are we doing the appropriate tests each time?

Authors:  W Kurdi
Journal:  J Prenat Med       Date:  2007-01

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

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

3.  Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Authors:  R Vervoort; M R Islam; W S Sly; M T Zabot; W J Kleijer; A Chabas; A Fensom; E P Young; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 4.  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Authors:  E I Parker; M Xing; A Moreno-De-Luca; E Harmouche; M R Terk
Journal:  Br J Radiol       Date:  2013-11-14       Impact factor: 3.039

5.  Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Authors:  Hanan E Shamseldin; Maha Tulbah; Wesam Kurdi; Maha Nemer; Nada Alsahan; Elham Al Mardawi; Ola Khalifa; Amal Hashem; Ahmed Kurdi; Zainab Babay; Dalal K Bubshait; Niema Ibrahim; Firdous Abdulwahab; Zuhair Rahbeeni; Mais Hashem; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2015-06-03       Impact factor: 13.583

6.  Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:  Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly
Journal:  J Med Genet       Date:  2016-02-23       Impact factor: 6.318
  6 in total

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