3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 913-921

  Wortmann, Saskia B ^a   Kluijtmans, Leo A J ^a   Rodenburg, Richard J ^a   Sass, Jörn Oliver ^b,c   Nouws, Jessica ^a   Van Kaauwen, Edwin P ^a   Kleefstra, Tjitske ^a   Tranebjaerg, Lisbeth ^d,e   De Vries, Maaike C ^a   Isohanni, Pirjo ^f,g   Walter, Katharina ^h   Alkuraya, Fowzan S ^i,j   Smuts, Izelle ^k   Reinecke, Carolus J ^l   Van Der Westhuizen, Francois H ^l   Thorburn, David ^m   Smeitink, Jan A M ^a   Morava, Eva ^a   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e BISPEBJERG HOSPITAL   (Denmark)

^f UNIVERSITY OF HELSINKI   (Finland)

^g HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^h UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

ⁱ ALFAISAL UNIVERSITY   (Saudi Arabia)

^j KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^k UNIVERSITY OF PRETORIA   (South Africa)

^l NORTH WEST UNIVERSITY   (South Africa)

^m ROYAL CHILDREN'S HOSPITAL   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA;

3 METHYLGLUTACONIC ACIDURIA; 3 METHYLGLUTACONIC ACIDURIA NOT OTHERWISE SPECIFIED; 3 METHYLGLUTACONYL COENZYME A HYDRATASE DEFICIENCY; AMINOACIDURIA; ARTICLE; AUH GENE; BARTH SYNDROME; COHORT ANALYSIS; COSTEFF SYNDROME; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNAJC19 GENE; GENE; GENE MUTATION; HEMATOLOGIC DISEASE; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MASS FRAGMENTOGRAPHY; MEGDEL SYNDROME; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL MEMBRANE; NEUROMUSCULAR DISEASE; OPA3 GENE; RESPIRATORY CHAIN; SERAC1 GENE; TAZ GENE; TMEM70 DEFECT; TMEM70 GENE; UREA CYCLE DISORDER; URINALYSIS;

AMINO ACID METABOLISM, INBORN ERRORS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GLUTARATES; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; NETHERLANDS; RETROSPECTIVE STUDIES; URINALYSIS;

EID: 84888205199     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9579-6     Document Type: Article

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