Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult

British Journal of Haematology

Volumn 119, Issue 2, 2002, Pages 397-399

  Tonetti, Carole ^a   Ruivard, Marc ^b   Rieu, Virginie ^b   Zittoun, Jacqueline ^a   Giraudier, Stephane ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b Service of Internal Medicine Hôtel dieu   (France)

Author keywords

Hyperhomocysteinaemia, pulmonary embolism, MTHFR deficiency, molecular analysis, methylfolate

Indexed keywords

ALTEPLASE; ANTIVITAMIN K; BETAINE; FLUINDIONE; FOLIC ACID; HEPARIN; HYDROXOCOBALAMIN; ORAL CONTRACEPTIVE AGENT;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE COURSE; ENZYME DEFICIENCY; EXON; FEMALE; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LUNG EMBOLISM; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; CONTRACEPTIVES, ORAL, HORMONAL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLIC ACID; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PULMONARY EMBOLISM;

EID: 0036436871     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03876.x     Document Type: Article

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