Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel

European Journal of Paediatric Neurology

Volumn 11, Issue 2, 2007, Pages 81-89

  Korman, Stanley H ^a   Jakobs, Cornelis ^b   Darmin, Patricia S ^b   Gutman, Alisa ^a   van der Knaap, Marjo S ^b   Ben Neriah, Ziva ^a   Dweikat, Imad ^c   Wexler, Isaiah D ^a   Salomons, Gajja S ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Makassed Islamic Hospital   (Israel)

Author keywords

3 hydroxyglutaric acid; Acylcarnitines; GCDH mutations; Glutaric acid; Glutarylcarnitine; Prenatal diagnosis

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CARNITINE; DNA; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; HISTIDINE; ISOLEUCINE; LEUCINE; METHIONINE; PROLINE; SERINE; THREONINE; VALINE;

ACIDURIA; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AWARENESS; BIOCHEMISTRY; BLOOD ANALYSIS; CHILD; CHORION VILLUS; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE SEVERITY; DNA DETERMINATION; ENVIRONMENTAL FACTOR; FAMILY STUDY; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GLUTARIC ACIDURIA; HEREDITY; HUMAN; HUMAN CELL; INCIDENCE; ISRAEL; MALE; MASS SPECTROMETRY; MEDICAL SPECIALIST; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALESTINE; PHENOTYPE; POPULATION GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYMPTOM; URINARY EXCRETION;

ADOLESCENT; ADULT; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; ISOLEUCINE; ISRAEL; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; THREONINE;

EID: 33847219273     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.11.006     Document Type: Article

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