✦ LIBER ✦

Type 1a glycogen storage disease with hepatoblastoma in siblings

✍ Scribed by Etsuro Ito; Yuichi Sato; Kyoichi Kawauchi; Hirohumi Munakata; Yosimasa Kamata; Hirahu Yodono; Masaru Yokoyama

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 433 KB
Volume: 59
Category: Article
ISSN: 0008-543X
DOI: 10.1002/1097-0142(19870515)59:10<1776::aid-cncr2820591016>3.0.co;2-t

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Glycogen storage disease type 1a in Isra

Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies

✍ Parvari, Ruti; Lei, Ke-Jian; Bashan, Nava; Hershkovitz, Eli; Korman, Stanley H.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION

✍ LEE-JUN C. WONG 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 361 KB 👁 1 views

Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb

Novel mutations in African American pati

Novel mutations in African American patients with glycogen storage disease type II

✍ Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB 👁 1 views

The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid α αglucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African America

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY SINGLE STRANDED CONFORMATION POLYMORPHISM (SSCP)

✍ R. PARVARI; E. HERSHKOVITZ; R. CARMI; S. MOSES 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 369 KB

Glycogen storage disease type l a (GSD la), a severe metabolic disorder, is caused by the absence of glucose-6-phosphatase (G6Pase) activity. Diagnosis is currently established by demonstrating the lack of G6Pase activity in the patient's liver specimen. Enzymatic diagnosis cannot be performed in ch

Severe hypertriglyceridemia and recurren

Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia

✍ N. Vivatrat; B.A. Barshop; K.L. Jones 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB

Identification of a novel mutation (867d

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog