Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Grünert, Sarah C ^a   Wendel, Udo ^b   Lindner, Martin ^c   Leichsenring, Michael ^d   Schwab, K Otfried ^a   Vockley, Jerry ^e,f   Lehnert, Willy ^a   Ensenauer, Regina ^g  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL ULM   (Germany)

^e UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

isovaleric acidemia; mortality; neurocognitive outcome; symptomatic

Indexed keywords

CARNITINE; GLYCINE; ISOVALERIC ACID; ISOVALERYLCARNITINE; ISOVALERYLGLYCINE; UNCLASSIFIED DRUG; ISOVALERYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ADOLESCENT; ADULT; ARTICLE; CATABOLISM; CHILD; CHILDHOOD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; DIAGNOSTIC TEST; EARLY DIAGNOSIS; FEMALE; GROUPS BY AGE; HUMAN; HUMAN CELL; INTELLIGENCE QUOTIENT; ISOVALERIC ACIDEMIA; LABORATORY TEST; MALE; MEDICAL LITERATURE; MEDLINE; MORTALITY; NEUROLOGIC DISEASE; NEWBORN MORTALITY; ONSET AGE; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; RETROSPECTIVE STUDY; SCHOOL CHILD; SURVIVAL; SYSTEMATIC REVIEW; AGING; CROSS-SECTIONAL STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; INFANT; INTELLECTUAL IMPAIRMENT; NEWBORN; PATHOLOGY; PSYCHOMOTOR DISORDER;

ADOLESCENT; ADULT; AGING; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; ISOVALERYL-COA DEHYDROGENASE; MALE; PSYCHOMOTOR DISORDERS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84857920833     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-9     Document Type: Article

References (21)

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