Literature DB >> 276430

Two cases of unusual Type I glycogenosis.

E L Rosenfeld, I V Chibisov, L V Chistova, A F Leontjev, I M Karmansky.   

Abstract

Two patients with apparent clinical manifestations of glycogen storage disease were described. The curves obtained upon glucose and adrenalin tolerance tests were indicative of glycogen storage disease Type I. Liver biopsies showed the increased glycogen concentration; however, the activities of the enzymes involved in glycogen metabolism, including glucose-6-phosphatase activity, were within normal limits or even slightly enhanced. On the basis of the biochemical data, Type Ib glycogenosis was diagnosed. The analytical ultracentrifugation studies of serum lipoproteins of those patients showed that concentration of very low density lipoproteins was considerably increased.

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Year:  1978        PMID: 276430     DOI: 10.1016/0009-8981(78)90384-4

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


  3 in total

1.  Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia.

Authors:  C R Bartram; H Przyrembel; U Wendel; H J Bremer; J Schaub; J R Haas
Journal:  Eur J Pediatr       Date:  1981-09       Impact factor: 3.183

Review 2.  Glycogen storage disease type Ib.

Authors:  J Schaub; K Heyne
Journal:  Eur J Pediatr       Date:  1983-09       Impact factor: 3.183

3.  Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

Authors:  Yan Liang; Caiqi Du; Hong Wei; Cai Zhang; Min Zhang; Minghui Hu; Feng Fang; Xiaoping Luo
Journal:  Mol Genet Genomic Med       Date:  2020-08-08       Impact factor: 2.183

  3 in total

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