Literature DB >> 12748853

A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.

Elisabeth Walter-Nicolet1, Thameur Rakza2, Laurent Storme1, Catherine Vaillant1, Eric Magnenant1, Robin Cremer3, Caroline Thumerelle4, Dries Dobbelaere5.   

Abstract

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Year:  2003        PMID： 12748853     DOI： 10.1007/s00431-003-1198-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

1.  Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency.

Authors:  J Gehler; M Cantz; M Tolksdorf; J Spranger; E Gilbert; H Drube
Journal:  Humangenetik       Date:  1974-07-15

2.  Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

Authors:  W S Sly; B A Quinton; W H McAlister; D L Rimoin
Journal:  J Pediatr       Date:  1973-02       Impact factor: 4.406

3.  Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.

Authors:  A J Molyneux; E Blair; N Coleman; P Daish
Journal:  J Clin Pathol       Date:  1997-03       Impact factor: 3.411

4.  Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.

Authors:  A Nelson; L Peterson; B Frampton; W S Sly
Journal:  J Pediatr       Date:  1982-10       Impact factor: 4.406

5.  Beta-glucuronidase deficiency in a girl with unusual clinical features.

Authors:  R A Pfeiffer; H Kresse; N Bäumer; E Sattinger
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

6.  Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis.

Authors:  J E Lee; R E Falk; W G Ng; G N Donnell
Journal:  Am J Dis Child       Date:  1985-01

7.  Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.

Authors:  W Lissens; G Dedobbeleer; W Foulon; L De Catte; K Charels; A Goossens; I Liebaers
Journal:  Prenat Diagn       Date:  1991-06       Impact factor: 3.050
  7 in total
  3 in total

Review 1.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

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

Review 3.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123
  3 in total

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