Hyperglycinaemia in a child with carbohydrate-deficient glycoprotein syndrome type I

Journal of Inherited Metabolic Disease

Volumn 19, Issue 6, 1996, Pages 796-797

  Subhedar, N V ^a  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CONGENITAL DISORDER OF GLYCOSYLATION; FACE DYSMORPHIA; HUMAN; HYPERGLYCINEMIA; INFANT; MALE; PLASMA;

EID: 0029830619     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799178     Document Type: Article

References (3)

1. Carson NAJ (1982) Non-ketotic hyperglycinaemia - a review of 70 patients. J Inker Metab Dis S (supplement 2): 126-128.
2. Jaeken J, Stibler H (1989) A newly recognised inherited neurological disease with carbohydrate-deficient secretory glycoproteins. In Wetterberg, L. ed. Genetics of Neuropsychiatric Diseases, Wenner-Gren Center International Symposium Series, vol. 51. New York: Macmillan, 69-80.
3. Stibler H, Jaeken J, Kristiansson B (1991) Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375: 21-31.