Glutaric aciduria type I: Diagnosis in adulthood and phenotypic variability;Aciduria glutárica tipo I: Diagnóstico en el adulto y variabilidad fenotípica

Neurologia

Volumn 16, Issue 8, 2001, Pages 377-380

  Corral, I ^a   Martinez Castrillo J C ^a   Martinez Pardo M ^a   Gimeno, A ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

Choreoathetosis; Dystonia; Glutaric aciduria type I

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; RIBOFLAVIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DISEASE; CASE REPORT; CHOREOATHETOSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DYSKINESIA; EARLY DIAGNOSIS; ENZYME ACTIVITY; FIBROBLAST; GENETIC VARIABILITY; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR DEVELOPMENT; TREATMENT FAILURE; URINARY EXCRETION;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES, METABOLIC; CARNITINE; FIBROBLASTS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MOVEMENT DISORDERS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RIBOFLAVIN; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0035161927     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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