High biotinidase activity in type Ia glycogen storage disease [20]

American Journal of Gastroenterology

Volumn 95, Issue 8, 2000, Pages 2144-

  Saltik, Inci Nur ^a,b   Özen, Hasan ^a   Koçak, Nurten ^a   Yüce, Aysel ^a   Gürakan, Figen ^a  

^a Department of Pediatric Gastroenterology ^*  (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE;

COLORIMETRY; DIAGNOSTIC APPROACH ROUTE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; GLYCOGEN STORAGE DISEASE; HUMAN; LETTER; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 84897362794     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(00)01014-5     Document Type: Letter

References (6)

1. Glycogen storage diseases
2. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia
3. Glycogen storage disease type Ia in Israel: Biochemical, clinical, and mutational studies
4. Increased serum biotinidase activity in glycogen storage disease type Ia
5. Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: Effect of biotin supplementation
6. A screening method for biotinidase deficiency in newborns