Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait-Reference-Cited by-同舟云学术

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait

Published:2005 Issue:2 Volume:137A Page:125-129
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tiemann Christian,Bührer Christoph,Burwinkel Barbara,Wirtenberger Michael,Hoehn Thomas,Hübner Christoph,van Landeghem Frank K.H.,Stoltenburg Gisela,Obladen Michael

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Glycogen storage disease type IV presenting as hydrops fetalis

2. Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency

3. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

4. Apparent absence of glycogen branching enzyme activity in phosphofructokinase deficiency

5. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

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