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Literature DB >> 3464425

A juvenile variant of glycogenosis IV (Andersen disease).

A S Guerra, O P van Diggelen, F Carneiro, R M Tsou, S Simoes, N T Santos.

Abstract

An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1986 PMID： 3464425 DOI： 10.1007/BF00446059

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

9 in total

1. Familial cirrhosis of the liver with storage of abnormal glycogen.

Authors: D H ANDERSEN
Journal: Lab Invest Date: 1956 Jan-Feb Impact factor: 5.662

2. Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection.

Authors: R R Howell; M M Kaback; B I Brown
Journal: J Pediatr Date: 1971-04 Impact factor: 4.406

3. Type IV glycogenosis. Patient with absence of a branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase.

Authors: G B Reed; J F Dixon; J B Neustein; G N Donnell; B H Landing
Journal: Lab Invest Date: 1968-11 Impact factor: 5.662

4. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

Authors: B I Brown; D H Brown
Journal: Proc Natl Acad Sci U S A Date: 1966-08 Impact factor: 11.205

5. Glycogen branching enzyme in Lafora myoclonus epilepsy.

Authors: C P Zimmerman; A M Gold
Journal: Biochem Med Date: 1982-08

6. Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies.

Authors: V J Ferrans; R G Hibbs; J J Walsh; G E Burch
Journal: Am J Cardiol Date: 1966-04 Impact factor: 2.778

7. [Recent data on Lafora disease. Apropos of 17 cases].

Authors: M C Mouren; J Roger
Journal: Arch Fr Pediatr Date: 1979-03

8. An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

Authors: I T Ferguson; M Mahon; W J Cumming
Journal: J Neurol Sci Date: 1983 Aug-Sep Impact factor: 3.181

9. 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

9 in total

12 in total

1. Hepatocellular carcinoma in glycogen storage disease type IV.

Authors: R A de Moor; J J Schweizer; B van Hoek; M Wasser; R Vink; P D Maaswinkel-Mooy
Journal: Arch Dis Child Date: 2000-06 Impact factor: 3.791

2. Liver transplantation for type IV glycogen storage disease.

Authors: R Selby; T E Starzl; E Yunis; B I Brown; R S Kendall; A Tzakis
Journal: N Engl J Med Date: 1991-01-03 Impact factor: 91.245

3. Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes.

Authors: Y S Shin; H Steigüber; P Klemm; W Endres; O Schwab; G Wolff
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

4. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Authors: B Giuffrè; R Parini; T Rizzuti; L Morandi; O P van Diggelen; C Bruno; M Giuffrè; G Corsello; F Mosca
Journal: J Inherit Metab Dis Date: 2004 Impact factor: 4.982

5. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Authors: J M Schröder; R May; Y S Shin; M Sigmund; S Nase-Hüppmeier
Journal: Acta Neuropathol Date: 1993 Impact factor: 17.088

6. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

Authors: A McConkie-Rosell; C Wilson; D A Piccoli; J Boyle; T DeClue; P Kishnani; J J Shen; A Boney; B Brown; Y T Chen
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982