Literature DB >> 10771888

Type Ib glycogenosis.

R Christopher1, K T Shetty.   

Abstract

Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.

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Year:  1997        PMID: 10771888     DOI: 10.1007/bf02737768

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  5 in total

1.  Von Gierke's disease: a case report.

Authors:  N Sundaravalli; G Ranganathan; R Sushila; V Balagopal Raju
Journal:  Indian Pediatr       Date:  1975-04       Impact factor: 1.411

2.  Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.

Authors:  K Narisawa; S Ishizawa; H Okumura; K Tada; T Kuzuya
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Glycogen storage disease (von Gierke's type).

Authors:  A M Tripathi; S M Dubey; G P Katiyar
Journal:  Indian Pediatr       Date:  1973-09       Impact factor: 1.411

4.  Glycogen storage disease. (Report of three cases).

Authors:  T Devi; O Mathew
Journal:  Indian Pediatr       Date:  1971-01       Impact factor: 1.411

5.  Cornstarch therapy in type I glycogen-storage disease.

Authors:  Y T Chen; M Cornblath; J B Sidbury
Journal:  N Engl J Med       Date:  1984-01-19       Impact factor: 91.245

  5 in total

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