Type I glutaric aciduria, part 1: Natural history of 77 patients

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 121 C, Issue 1, 2003, Pages 38-52

  Strauss, Kevin A ^a   Puffenberger, Erik G ^a   Robinson, Donna L ^b   Morton, D Holmes ^a  

^a CLINIC FOR SPECIAL CHILDREN   (United States)

^b NONE

Author keywords

Basal ganglia injury; Micrencephalic macrocephaly; Type I glutaric aciduria

Indexed keywords

GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; LYSINE; OXIDOREDUCTASE; TRYPTOPHAN;

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; BEHAVIOR DISORDER; BRAIN NECROSIS; BRAIN RADIOGRAPHY; CHILD; CHILD BEHAVIOR; CHROMOSOME 19; CLINICAL FEATURE; DIET THERAPY; DISEASE COURSE; DYSTONIA; ENCEPHALITIS; ENZYME DEFICIENCY; GENETICS; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INFANT MORTALITY; INFECTION; LABORATORY TEST; MACROCEPHALY; MAJOR CLINICAL STUDY; METABOLIC ENCEPHALOPATHY; METABOLISM; MICROCEPHALY; MORBIDITY; MUTATION; NECROSIS; NEUROPATHOLOGY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL DEFICIENCY; PATHOLOGY; PRIORITY JOURNAL; PUTAMEN; RETINA HEMORRHAGE; STROKE; SUBDURAL HEMATOMA; TISSUE DEGENERATION; URINALYSIS; URINE; VASCULARIZATION;

EID: 0042508736     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.20007     Document Type: Article

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