Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Author:

Conter C.,Rolland M. O.,Cheillan D.,Bonnet V.,Maire I.,Froissart R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DKC, Bemis G (2000) Non concordance of CVS and liver glycine cleavage enzyme in 3 families with NKH leading to false negative prenatal diagnoses. Prenat Diagn 20: 367–370.

2. Applegarth DA, Toone JR (2004) Glycine encephalopathy (nonketotic hyperglycinemia): review and update. J Inherit Metab Dis 27: 417–422.

3. Hamosh A, Johnston MV (2001) Nonketotic hyperglycinemia. In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc.eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. Disease, New York: McGraw-Hill, 2065–2078.

4. Hiraga K, Kochi H, Hayasaka K, Kikuchi G, Nyhan WL (1981) Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active decarboxylase and an abnormal aminomethyl carrier protein. J Clin Invest 68: 525–534.

5. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth DA, Toone JR, Hamosh A (2003) Natural history of glycine encephalopathy in 65 patients. J Inherit Metab Dis 26(Supplement 2): A128-O.

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