3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 341-344

  Ensenauer, R ^a   Muller C B ^a   Schwab, K O ^a   Gibson, K M ^b   Brandis, M ^a   Lehnert, W ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; CARBOXYLIC ACID; HYDROLYASE; LEUCINE;

CLINICAL FEATURE; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; MALE; PRESCHOOL CHILD; SPEECH DISORDER; URINALYSIS;

AMINO ACID METABOLISM, INBORN ERRORS; CELLS, CULTURED; DIET, PROTEIN-RESTRICTED; FIBROBLASTS; GLUTARATES; HUMANS; HYDRO-LYASES; MEGLUTOL; SPEECH DISORDERS; VALERATES;

EID: 0343729942     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005670911799     Document Type: Article

References (12)

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