Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia

Experimental and Clinical Endocrinology and Diabetes

Volumn 113, Issue 7, 2005, Pages 396-403

  Wibmer, T ^a,b   Otto, J ^a   Parhofer, K G ^b   Otto, Carsten ^b  

^a UNIVERSITY OF MUNICH   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

GK; GKD; Glycerol kinase; Glycerol kinase deficiency; Hyperglycerolemia

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLYCEROL KINASE; LIGAND;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; GLYCEROL KINASE DEFICIENCY; HUMAN; HYDROGEN BOND; HYPERGLYCEROLEMIA; HYPERTRIGLYCERIDEMIA; HYPOPLASIA; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AGED; AMINO ACID SEQUENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; DNA; FATAL OUTCOME; FEMALE; GLYCEROL; GLYCEROL KINASE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; TRIGLYCERIDES;

EID: 23044479402     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-865723     Document Type: Article

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