Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: Proper classification and nomenclature

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 923-928

  Wortmann, Saskia B ^a   Duran, Marinus ^b   Anikster, Yair ^c   Barth, Peter G ^d   Sperl, Wolfgang ^e   Zschocke, Johannes ^f   Morava, Eva ^a   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Laboratory for Genetic Metabolic Diseases   (Netherlands)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e PARACELSUS MEDICAL UNIVERSITY   (Austria)

^f INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACIDURIA; AMINOACIDURIA; ARTICLE; BARTH SYNDROME; COSTEFF SYNDROME; DCMA SYNDROME; DISEASE CLASSIFICATION; HUMAN; INBORN ERROR OF METABOLISM; MASS FRAGMENTOGRAPHY; MEGDEL SYNDROME; NOMENCLATURE; PROTON NUCLEAR MAGNETIC RESONANCE;

ABNORMALITIES, MULTIPLE; BARTH SYNDROME; CARDIOMYOPATHY, DILATED; CEREBELLAR ATAXIA; CHOREA; DIAGNOSIS, DIFFERENTIAL; GLUTARATES; HUMANS; METABOLISM, INBORN ERRORS; OPTIC ATROPHY; SPASTIC PARAPLEGIA, HEREDITARY; TERMINOLOGY AS TOPIC;

EID: 84888200186     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9580-0     Document Type: Article

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