Glutaric aciduria type 1: An example of the importance of early recognition of »cerebral« organic acidurias;Glutarička acidurija tipa 1: Primjer važnosti ranog prepoznavanja tzv. cerebralnih organskih acidurija

Lijecnicki Vjesnik

Volumn 125, Issue 11-12, 2003, Pages 312-316

  Barić, Ivo ^a   Baraka, Krešimir ^b   Maradin, Miljenka ^c   Bartoniček, Dorotea ^a   Sarnavka, Vladimir ^a   Begović, Davor ^a   Fumić, Ksenija ^c  

^a Zavod Genetiku i Bolesti Metabolizma   (Croatia)

^b Zupanijska Bolnica Zadar   (Croatia)

^c KBC Zagreb   (Croatia)

Author keywords

Amino acid metabolism, inborn errors diagnosis, therapy; Brain diseases metabolic, inborn diagnosis, therapy, prevention and control; Glutarates urine

Indexed keywords

3 HYDROXYGLUTARIC ACID; CARNITINE; GLUTACONIC ACID; GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; HYDROXYLYSINE; LYSINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ACIDURIA; AGE; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AWARENESS; BRAIN INJURY; BRAIN METABOLISM; CASE REPORT; CATABOLISM; CAUDATE NUCLEUS; CHILDHOOD DISEASE; CLINICAL FEATURE; DISEASE CONTROL; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; EARLY DIAGNOSIS; GASTROINTESTINAL INFECTION; GLUTARIC ACIDURIA TYPE 1; HUMAN; IMMUNIZATION; INBORN ERROR OF METABOLISM; LUNG INFECTION; MACROCEPHALY; METABOLIC ENCEPHALOPATHY; MUSCLE HYPOTONIA; NEUROIMAGING; PRESCHOOL CHILD; PROTEIN RESTRICTION; PUTAMEN; URINALYSIS; CHRONIC BRAIN DISEASE; DIFFERENTIAL DIAGNOSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; INFANT; MALE; METABOLISM; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DAMAGE, CHRONIC; DIAGNOSIS, DIFFERENTIAL; GLUTARATES; HUMANS; HYDROXYLYSINE; INFANT; LYSINE; MALE; TRYPTOPHAN;

EID: 2542423665     PISSN: 00243477     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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