CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families

Journal of Inherited Metabolic Disease

Volumn 25, Issue 6, 2002, Pages 461-476

  Zavad'akova P ^a   Fowler, B ^c   Zeman, J ^b   Suormala, T ^c   Pristoupilova K ^d   Kozich V ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d NONE   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; BETAINE; CYANOCOBALAMIN; FOLIC ACID; FOLINATE CALCIUM; FOLINIC ACID; FORMIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; METHIONINE SYNTHASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL STUDY; CONFORMATIONAL TRANSITION; CZECHOSLOVAKIA; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DISEASE SEVERITY; DRUG WITHDRAWAL; ENHANCER REGION; ENZYME ACTIVATION; ENZYME DEFICIENCY; EXON; FEMALE; FIBROBLAST; GENE INSERTION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOCYSTINURIA; HUMAN; HUMAN CELL; HYPERHOMOCYSTEINEMIA; INTRON; MEGALOBLASTIC ANEMIA; MENTAL DEFICIENCY; NYSTAGMUS; PHENOTYPE; PHYSIOTHERAPY; PRENATAL DIAGNOSIS; PROTEIN METABOLISM; PROTEIN PROCESSING; RECURRENT DISEASE; SCHOOL CHILD;

ADULT; ANEMIA, MEGALOBLASTIC; BASE SEQUENCE; CELLS, CULTURED; CHILD; CHROMATOGRAPHY, ION EXCHANGE; DNA; FEMALE; FERREDOXIN-NADP REDUCTASE; FIBROBLASTS; FOLIC ACID; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; METHIONINE; MOLECULAR SEQUENCE DATA; MUTATION; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SERINE; VITAMIN B 12;

EID: 12244280859     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021299117308     Document Type: Article

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