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3‐hydroxy‐3‐methylglutaryl‐coenzyme a lyase deficiency: Report of five new patients
Author(s) -
Gibson K. M.,
Breuer J.,
Kaiser K.,
Nyhan W. L.,
McCoy E. E.,
Ferreira P.,
Greene C. L.,
Blitzer M. G.,
Shapira E.,
Reverte F.,
Conde C.,
Bagnell P.,
Cole D. E. C.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800058
Subject(s) - coenzyme a , medicine , lyase , metabolic disease , human genetics , enzyme , endocrinology , biochemistry , chemistry , gene , reductase
Summary Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review. J. Inher. Metab. Dis. 9, 225–233.