A patient with an inborn error of vitamin B12 metabolism (cblf) detected by newborn screening

Pediatrics

Volumn 132, Issue 1, 2013, Pages

  Armour, Christine M ^a   Brebner, Alison ^b   Watkins, David ^b,d   Geraghty, Michael T ^a   Chan, Alicia ^c   Rosenblatt, David S ^b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^d MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

CblF; Cobalamin; Hyperhomocysteinemia; LMBRD1; Lysosome; Methylmalonic acidemia; Newborn screening

Indexed keywords

ACYLCARNITINE; COBALAMIN; CYANOCOBALAMIN; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE SYNTHASE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CBLF INBORN ERROR OF VITAMIN B12 METABOLISM; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; ISOTOPE LABELING; LMBRD1 GENE; NEWBORN SCREENING; PRIORITY JOURNAL; RESTRICTION MAPPING; VITAMIN BLOOD LEVEL; VITAMIN METABOLISM;

CBLF; COBALAMIN; HYPERHOMOCYSTEINEMIA; LMBRD1; LYSOSOME; METHYLMALONIC ACIDEMIA; NEWBORN SCREENING;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYDROXOCOBALAMIN; INFANT; INFANT, NEWBORN; NEONATAL SCREENING; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; ONTARIO; VITAMIN B 12;

EID: 84879988044     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-0105     Document Type: Article

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