Literature DB >> 2512429

First trimester prenatal diagnosis of glycogen storage disease type III.

I Maire1, G Mandon, M Mathieu.   

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Year:  1989        PMID： 2512429     DOI： 10.1007/bf03335402

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease.

Authors:  B ILLINGWORTH; G T CORI; C F CORI
Journal:  J Biol Chem       Date:  1956-01       Impact factor: 5.157

2.  [Long-term course of hepatic glycogenosis. A retrospective study of 76 cases].

Authors:  L de Parscau; P Guibaud; P Labrune; M Odièvre
Journal:  Arch Fr Pediatr       Date:  1988-11

3.  Possible prenatal diagnosis of type III glycogenosis.

Authors:  I Maire; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease.

Authors:  D H Brown; L M Waindle; B I Brown
Journal:  J Biol Chem       Date:  1978-07-25       Impact factor: 5.157

5.  Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

Authors:  O P van Diggelen; H C Janse; G P Smit
Journal:  Clin Chim Acta       Date:  1985-07-15       Impact factor: 3.786
  5 in total
  3 in total

1.  Definitive prenatal diagnosis for type III glycogen storage disease.

Authors:  B Z Yang; J H Ding; B I Brown; Y T Chen
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

2.  Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Authors:  R Parvari; J Shen; E Hershkovitz; Y T Chen; S W Moses
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

3.  Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Authors:  J Shen; H M Liu; Y Bao; Y T Chen
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318
  3 in total

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