Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy

Journal of Inherited Metabolic Disease

Volumn 22, Issue 4, 1999, Pages 381-391

  Hoffmann, G F ^a,b   Zschocke, J ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b University Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANTIOXIDANT; CALCIUM CHANNEL BLOCKING AGENT; CARBOXYLIC ACID; CARNITINE; CARNITINE DERIVATIVE; CHOLINERGIC RECEPTOR BLOCKING AGENT; CREATINE; GLUCOSE; GLUTAMATE RECEPTOR ANTAGONIST; GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; GLUTARYLCARNITINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; UNCLASSIFIED DRUG;

ACIDURIA; AGE; BRAIN DEVELOPMENT; CATABOLISM; CAUDATE NUCLEUS; CHOREOATHETOSIS; CLINICAL FEATURE; CONFERENCE PAPER; DIET RESTRICTION; ENZYME DEFICIENCY; FETUS; FEVER; FRONTAL CORTEX; GENE MUTATION; HEAD INJURY; HUMAN; IMMUNIZATION; INFANT; INFECTION; MACROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; NEUROLOGIC DISEASE; NEUROPATHOLOGY; NEWBORN; NEWBORN SCREENING; ORAL DRUG ADMINISTRATION; PROTEIN DIET; PUTAMEN; RECEPTOR OCCUPANCY; SPASTICITY; TANDEM MASS SPECTROMETRY; TEMPORAL CORTEX; URINALYSIS;

ANIMALS; GLUTARATES; HUMANS; METABOLISM, INBORN ERRORS;

EID: 0033043304     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005543904484     Document Type: Conference Paper

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