d -Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence
Author:
Funder
Jürgen Manchot Stiftung
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference24 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
2. d(+)-Glyceric aciduria: etiology and clinical consequences;Bonham;Pediatr. Res.,1990
3. Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism;Brandt;Br. Med. J.,1974
4. d-Glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome;Brandt;Acta Paediatr. Scand.,1976
5. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT;Coughlin;Genet Med,2017
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