Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria?

Molecular Genetics and Metabolism

Volumn 91, Issue 4, 2007, Pages 399-401

  Augoustides Savvopoulou, P ^a   Salomons, G S ^b   Dotis, J ^c   Roilides, E ^c   Leontsini, M ^a   Jakobs, C ^b   Panteliadis, C ^c  

^a Aristotle University Medical School   (Greece)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

l 2 Hydroxyglutaric aciduria; Mutation analysis; Prenatal

Indexed keywords

2 HYDROXYGLUTARIC ACID;

2 HYDROXYGLUTARIC ACIDURIA; AMNION FLUID ANALYSIS; ARTICLE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTENSION; IMMUNOGLOBULIN DEFICIENCY; KIDNEY FAILURE; LEUKODYSTROPHY; MACROCEPHALY; METABOLIC DISORDER; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

ABORTION, INDUCED; AMNIOCENTESIS; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; GLUTARATES; HUMANS; MAGNETIC RESONANCE IMAGING; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34447253803     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.04.014     Document Type: Article

References (9)

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