Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: Data from a cohort study

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Touw, Catharina M L ^a,b   Smit, G Peter A ^a,b   De Vries, Maaike ^c   De Klerk, Johannis B C ^d   Bosch, Annet M ^e   Visser, Gepke ^f   Mulder, Margot F ^g   Rubio Gozalbo, M Estela ^h   Elvers, Bert ⁱ   Niezen Koning, Klary E ^b   Wanders, Ronald J A ^e   Waterham, Hans R ^e   Reijngoud, Dirk Jan ^b   Derks, Terry G J ^a,b  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

Author keywords

Enzyme; Genotype; Population newborn screening; Prevalence

Indexed keywords

CARNITINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; COHORT ANALYSIS; ENZYME ACTIVITY; FAMILY; GENE FREQUENCY; GENOTYPE; HUMAN; HYPOGLYCEMIA; LEUKOCYTE; LYMPHOCYTE; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NETHERLANDS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; RETROSPECTIVE STUDY; RISK ASSESSMENT; SUPPLEMENTATION;

ACYL-COA DEHYDROGENASE; COHORT STUDIES; GENOTYPE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PHENOTYPE; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 84861379662     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-30     Document Type: Article

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