Galactosemia: The genotype and phenotype of seven patients;Galactosemia: Genotipo y fenotipo de siete pacientes

Revista de Neurologia

Volumn 38, Issue 12, 2004, Pages 1132-1135

  Martins, Esmeralda ^a   Teixeira, J ^b   Cardoso, M L ^c   Lima, M R ^c   Briones Godino, P ^d   Barbot, C ^a  

^a HOSPITAL MARIA PIA   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Classical galactosemia; Magnetic resonance imaging; Neurodegenerative disease; Q188R mutation

Indexed keywords

ARGININE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUTAMINE;

ARTICLE; BASAL GANGLION; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; DISORDERS OF CARBOHYDRATE METABOLISM; FEMALE; GALACTOSEMIA; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; KERNICTERUS; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; WHITE MATTER;

EID: 3543049966     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3812.2002564     Document Type: Article

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