Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

Author:

Sjarif Damayanti R,Hellerud Christina,Amstel Johannes K Ploos van,Kleijer Willem J,Sperl Wolfgang,Lacombe Didier,Sass Jõrn Oliver,Beemer Frits A,Duran Marinus,Poll-The Bwee Tien

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Sjarif DR, Sinke RJ, Duran M et al: Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J Med Genet 1998; 35: 650–656.

2. Hellerud C, Wramner N, Erikson A, Johansson Å, Samuelson G, Lindstedt S : Glycerol kinase deficiency; follow-up during 20 years, genetics, biochemistry, and prognosis. Acta Paediatr, In Press.

3. McCabe ERB : Disorders of glycerol metabolism; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill; 2001, pp 2217–2237.

4. Scheuerle A, Greenberg F, McCabe ER : Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediatr 1995; 126: 764–767.

5. Rose CI, Haines DS : Familial hyperglycerolemia. J Clin Invest 1978; 61 (1): 163–170.

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