Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Guerrero, R Bonilla ^a   Wolfe, L A ^b   Payne, N ^b   Tortorelli, S ^a   Matern, D ^a   Rinaldo, P ^a   Gavrilov, D ^a   Melan, M ^b   He, M ^b   Steinberg, S J ^d   Raymond, G V ^d   Vockley, J ^b,c   Gibson, K M ^b,c,e,f  

^a MAYO CLINIC   (United States)

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

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

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^f CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; ESSENTIAL FATTY ACID; ISOVALERYL COENZYME A DEHYDROGENASE;

ARTICLE; BLOOD; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF PEROXISOMAL FUNCTIONS; GENETICS; HUMAN; INFANT; MALE; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; NUTRITIONAL ASSESSMENT; PREDICTIVE VALUE;

AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; FATTY ACIDS, ESSENTIAL; HUMANS; INFANT; INFANT, NEWBORN; ISOVALERYL-COA DEHYDROGENASE; MALE; NEONATAL SCREENING; NUTRITION ASSESSMENT; PEROXISOMAL DISORDERS; PREDICTIVE VALUE OF TESTS;

EID: 84859901988     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1039-y     Document Type: Article

References (13)

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