L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Sass, J O ^a   Jobard, F ^b   Topcu M ^c   Mahfoud, A ^d   Werle E ^a   Cure, S ^e   Al Sannaa, N ^f   Alshahwan, S A ^g   Bataillard, M ^h   Cimbalistiene, L ⁱ   Grolik, C ^j   Kemmerich, V ^k   Omran, H ^a   Sztriha, L ^l   Tabache, M ^k   Fischer, J ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b DIF   (France)

^c HACETTEPE UNIVERSITY   (Turkey)

^d Instituto Internacional de Estudios Avanzados IDEA   (Venezuela)

^e CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^f DHAHRAN HEALTH CENTER   (Saudi Arabia)

^g Riyadh Military Hospital Pediatric Department ^*  (Saudi Arabia)

^h Centre Hospitalier Intercommunal   (France)

ⁱ VILNIUS UNIVERSITY   (Lithuania)

^j Kinderkrankenhaus der Stadt   (Germany)

^k Praxis für Kinder und Jugendmedizin ^*  (Germany)

^l UNIVERSITY OF SZEGED   (Hungary)

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Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; ALCOHOL DEHYDROGENASE; ALPHA-HYDROXYGLUTARATE; BIOLOGICAL MARKER; GLUTARIC ACID DERIVATIVE; L2HGDH PROTEIN, HUMAN;

ADULT; ARTICLE; CLINICAL TRIAL; DISEASE COURSE; ENZYMOLOGY; ETHNOLOGY; EUROPE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; HUMAN; INFANT; MALE; METABOLIC ENCEPHALOPATHY; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PREDICTIVE VALUE; SAUDI ARABIA; URINE; VENEZUELA;

ADULT; ALCOHOL OXIDOREDUCTASES; BIOLOGICAL MARKERS; BRAIN DISEASES, METABOLIC, INBORN; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUTARATES; HUMANS; INFANT; MALE; MUTATION; PAKISTAN; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SAUDI ARABIA; SEVERITY OF ILLNESS INDEX; VENEZUELA;

EID: 84859895644     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0855-4     Document Type: Article

References (17)

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