Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 160-171

  Morel, Chantal F ^a   Watkins, David ^a   Scott, Patrick ^a   Rinaldo, Piero ^b   Rosenblatt, David S ^a,c  

^a MCGILL UNIVERSITY   (Canada)

^b MAYO CLINIC   (United States)

^c MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

cblA; cblB; cblC; cblE; cblF; cblG; Homocysteine; Methylmalonic acid; Methylmalonyl CoA mutase; Prenatal diagnosis; Transcobalamin

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; COBALAMIN A; COBALAMIN B; COBALAMIN C; COBALAMIN DERIVATIVE; COBALAMIN E; COBALAMIN F; COBALAMIN G; CYANOCOBALAMIN; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; MUTASE; PROPIONIC ACID; TRANSCOBALAMIN; UNCLASSIFIED DRUG;

AMNION CELL; AMNION FLUID; ARTICLE; CELL CULTURE; CHEMICAL ANALYSIS; CHORION VILLUS SAMPLING; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HIGH RISK PREGNANCY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; LABORATORY DIAGNOSIS; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; METABOLITE; METHYLMALONIC ACIDEMIA; MUTATIONAL ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RISK; TANDEM MASS SPECTROMETRY;

BIOLOGICAL TRANSPORT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; PREGNANCY; PRENATAL DIAGNOSIS; VITAMIN B 12;

EID: 26244434932     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.018     Document Type: Article

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