An unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutation analysis

European Journal of Pediatrics

Volumn 157, Issue 1, 1998, Pages 50-52

  Perez Cerda C ^a   Merinero, B ^a   Marti M ^b   Cabrera, J C ^b   Pena L ^b   Garcia M J ^a   Gangoiti, J ^a   Sanz, P ^a   Rodriguez Pombo P ^a   Hoenicka, J ^a   Richard, E ^a   Muro, S ^a   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b Hospital Materno Infantil   (Spain)

Author keywords

Basal ganglia; PCC gene mutations; Propionic acidaemia

Indexed keywords

PROPIONIC ACID;

ARTICLE; BASAL GANGLION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DNA DETERMINATION; GENE MUTATION; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; URINE LEVEL;

AMINO ACID METABOLISM, INBORN ERRORS; BASAL GANGLIA; BASAL GANGLIA DISEASES; CARBOXY-LYASES; CHILD, PRESCHOOL; DISEASE PROGRESSION; FATAL OUTCOME; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METHYLMALONYL-COA DECARBOXYLASE; MUTATION; NECROSIS; PROPIONIC ACIDS;

EID: 15144347965     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050765     Document Type: Article

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