Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Human Mutation

Volumn 31, Issue 3, 2010, Pages 279-283

  Kranendijk, Martijn ^a   Struys, Eduard A ^a   Gibson, K Michael ^b   Wickenhagen, Wjera V ^a   Abdenur, Jose E ^c   Buechner, Jochen ^d   Christensen, Ernst ^e   De Kremer, Raquel Dodelson ^f   Errami, Abdellatif ^g   Gissen, Paul ^h   Gradowska, Wanda ⁱ   Hobson, Emma ^j   Islam, Lily ^k   Korman, Stanley H ^l   Kurczynski, Thaddeus ^m   Maranda, Bruno ⁿ   Meli, Concetta ^o   Rizzo, Cristiano ^p   Sansaricq, Claude ^q   Trefz, Friedrich K ^r   Webster, Rachel ^h   Jakobs, Cornelis ^a   Salomons, Gajja S ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

^c CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^d UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^e Rigshospitalet   (Denmark)

^f FACULTAD DE CIENCIAS MÉDICAS   (Argentina)

^g MRC HOLLAND   (Netherlands)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^k EALING HOSPITAL NHS TRUST   (United Kingdom)

^l HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^m AKRON CHILDREN'S HOSPITAL   (United States)

ⁿ LAVAL UNIVERSITY   (Canada)

^o UNIVERSITY OF CATANIA   (Italy)

^p BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^q MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^r Kreiskliniken Reutlingen   (Germany)

more..

Author keywords

D 2 HGA; D 2 HGDH; D 2 hydroxyglutarate dehydrogenase; D 2 hydroxyglutaric aciduria; D2HGDH

Indexed keywords

2 HYDROXYGLUTARIC ACID;

ACIDURIA; ARTICLE; BODY FLUID; CLINICAL ARTICLE; CONTROLLED STUDY; D 2 HYDROXYGLUTARATE DEHYDROGENASE GENE; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME ASSAY; GENE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; PRIORITY JOURNAL;

EID: 77149173436     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21186     Document Type: Article

References (23)

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