High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Gene

Volumn 534, Issue 2, 2014, Pages 197-203

  Karaca, Mehmet ^a   Hismi, Burcu ^b   Ozgul, Riza Koksal ^b   Karaca, Sefayet ^a   Yilmaz, Didem Yucel ^b   Coskun, Turgay ^b   Sivri, Hatice Serap ^b   Tokatli, Aysegul ^b   Dursun, Ali ^b  

^a AKSARAY UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Cystathionine beta synthase; Genotype phenotype correlation; Homocystinuria; Mutation analysis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; PYRIDOXINE;

ADOLESCENT; ARTICLE; CEREBRAL SINUS THROMBOSIS; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; ECTOPIC TISSUE; EXON; FEMALE; GENE MUTATION; GENOTYPE; HOMOCYSTINURIA; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; MYOPIA; NEWBORN; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; TREATMENT RESPONSE; TURKEY (REPUBLIC);

ADOMET; AT; CBS; CEREBRAL VENOUS SINUS THROMBOSIS; CVST; CYSTATHIONINE BETA-SYNTHASE; DEEP VEIN THROMBOSIS; DENATURATING HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY; DHPLC; DVT; F; FEMALE; GENOTYPE-PHENOTYPE CORRELATION; HCY; HOMOCYSTEINE; HOMOCYSTINURIA; INDIVIDUAL INFORMATION CONTENT; KS; KYPHOSCOLIOSIS; LE; LEFT TRANSVERSE SINUS; LENS ECTOPIA; LTS; M; MA; MALAR RASH; MALE; MARFANOID FEATURES; MEGALOBLASTIC ANEMIA; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; METHYLENETETRAHYDROFOLATE REDUCTASE; MF; MITRAL VALVE PROLAPSE; MR; MTHFR; MTR; MTRR; MUTATION ANALYSIS; MVP; NB; NBS; ND; NEWBORN; NEWBORN SCREENING; NOT DETERMINED; OP; OSTEOPENIA; PCR; PD; PLP; POLYMERASE CHAIN REACTION; POLYMORPHISM PHENOTYPING V2; POLYPHEN2; PSYCHOMOTOR DELAY; PYRIDOXAL 5′-PHOSPHATE; REAL-TIME POLYMERASE CHAIN REACTION; RENAL VEIN THROMBOSIS; RI; RIGHT ATRIAL THROMBOSIS; RIGHT SIGMOID SINUS; RIGHT TRANSVERSE SINUS; RSS; RT-PCR; RTS; RVT; S-ADENOSYL-L-METHIONINE; SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1; SERPINE1; SIFT; SORTING INTOLERANT FROM TOLERANT; SSS; SUPERIOR SAGITTAL SINUS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOCYSTINURIA; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PREVALENCE; SINUS THROMBOSIS, INTRACRANIAL; TURKEY; YOUNG ADULT;

EID: 84890441846     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.060     Document Type: Article

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