Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Molecular Genetics and Metabolism

Volumn 101, Issue 1, 2010, Pages 84-86

  Eichhorst, Jeff ^b   Alcorn, Jane ^c   LePage, Joyce ^a   Etter, Michele ^a   Antonishyn, Nick A ^a   Fitterer, Braden ^a   Birch, Duane A ^a   Agopsowicz, Kristin L ^a   Ruthnum, L ^d   Greenberg, Cheryl R ^e   Lehotay, Denis C ^b  

^a Saskatchewan Disease Control Laboratory   (Canada)

^b UNIVERSITY OF SASKATCHEWAN   (Canada)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

^d REGINA GENERAL HOSPITAL   (Canada)

^e UNIVERSITY OF MANITOBA   (Canada)

Author keywords

3 MCC deficiency; 3 Methylcrotonylglycinuria; 3 OH isovalerylcarnitine; Breast milk; Carnitine transporters; Newborn screening; Organic acidurias

Indexed keywords

3 HYDROXYISOVALERYLCARNITINE; ACYLCARNITINE; CARNITINE DERIVATIVE; UNCLASSIFIED DRUG;

3 METHYLCROTONYLCOENZYME A CARBOXYLASE DEFICIENCY; ARTICLE; BLOOD ANALYSIS; BREAST MILK; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HUMAN; INFANT; MALE; MATERNAL BLOOD; NEWBORN; NEWBORN SCREENING; NURSING; PRIORITY JOURNAL;

EID: 77955653443     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.05.002     Document Type: Article

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