Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
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A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.Vascular presentation of cystathionine beta-synthase deficiency in adulthood.Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionMetabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a familyHypermethioninemias of genetic and non-genetic origin: A review.Genetics of ectopia lentis.Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase geneCBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.Acute psychosis in an adolescent with undiagnosed homocystinuria.
P2860
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P2860
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
description
2001 nî lūn-bûn
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2001年の論文
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name
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@en
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@nl
type
label
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@en
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@nl
prefLabel
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@en
Cystathionine beta-synthase de ...... ng for homocystinuric alleles.
@nl
P50
P356
P1433
P1476
Cystathionine beta-synthase de ...... ing for homocystinuric alleles
@en
P2093
Terwilliger JD
P304
P356
10.1002/HUMU.1239
P577
2001-12-01T00:00:00Z