A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient

Journal of Inherited Metabolic Disease

Volumn 33, Issue 1, 2010, Pages 17-24

  Gailus, Susann ^a   Suormala, Terttu ^b   Malerczyk Aktas, Ayse Gül ^c   Toliat, Mohammad R ^e   Wittkampf, Tanja ^a   Stucki, Martin ^f,g   Nürnberg, Peter ^e   Fowler, Brian ^b   Hennermann, Julia B ^d   Rutsch, Frank ^a,h  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL MARBURG   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; COBALAMIN; COMPLEMENTARY DNA; GENE PRODUCT; HOMOCYSTEINE; HYDROXOCOBALAMIN; LMBR1 DOMAIN CONTAINING 1 PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; METHIONINE; METHYLMALONIC ACID; PHENOBARBITAL; PROTEIN LMBD1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; CHILD; FIBROBLAST CULTURE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INBORN ERROR OF COBALAMIN METABOLISM; INBORN ERROR OF METABOLISM; IRON DEFICIENCY ANEMIA; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE; SKIN FIBROBLAST; TURKEY (REPUBLIC);

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ALLELES; FEMALE; FIBROBLASTS; HOMOCYSTEINE; HUMANS; LYSOSOMES; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; TURKEY; VITAMIN B 12;

EID: 77649238315     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9032-7     Document Type: Article

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