The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
about
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteinsCystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.Homocysteine-lowering treatment: an overviewImpaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysisGenome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic strokeHydrogen sulfide maintains mesenchymal stem cell function and bone homeostasis via regulation of Ca(2+) channel sulfhydrationHomocysteine and cardiovascular disease: evidence on causality from a meta-analysis.Hyperhomocysteinaemia and human reproduction.Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide researchVITATOPS, the VITAmins TO prevent stroke trial: rationale and design of a randomised trial of B-vitamin therapy in patients with recent transient ischaemic attack or stroke (NCT00097669) (ISRCTN74743444).Chemical chaperone rescue of mutant human cystathionine beta-synthaseFolic acid, homocysteine, and cardiovascular disease: judging causality in the face of inconclusive trial evidence.Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a familyGuidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.Hypermethioninemias of genetic and non-genetic origin: A review.Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase geneCystathionine beta-synthase mutations: effect of mutation topology on folding and activity.Surrogate genetics and metabolic profiling for characterization of human disease alleles.Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
P2860
Q24319930-0728E195-544D-4FEE-95AA-292DAF1166A1Q25257376-904C5A5A-CBF4-410E-8B1E-6DD4469B2932Q28190121-27D62CA3-7904-4918-8119-925D1F5E2F81Q28365393-272BB92F-7CA5-4C38-A1E2-DE8A516B2A1FQ28743107-7FC48E2B-C4AF-40AB-9890-60677EC13D54Q30414223-340A99E9-0492-4080-BA4F-D5F848952C19Q33849378-0B66A249-4049-4FD6-8108-1EE413AF01DEQ34160359-410948B8-7719-4BDE-B578-88F431C7585FQ34395837-E1EAC3CC-8612-4291-9F20-F972DDF658E7Q34502082-D4AB7620-91D4-4D03-B7EB-57ABA9FDC2F5Q34595593-8087AEDB-5145-442C-8279-767E9AE18626Q36088268-374EABC5-F2E5-4986-A4F9-906B2F71FE60Q36662341-97D3CF70-E532-4A1A-8C28-5DB5F5878B90Q37127627-F702F682-3A69-4F79-950D-0946101FC088Q37547501-12444783-50B1-47AD-9B1F-1B8B6E84E926Q37615678-C2BC2620-99A6-4277-A134-8E94FE59F203Q37838882-4E29B198-02B6-436E-8889-7A83703A99F3Q41768656-71CBD9C9-9936-4632-93E2-05147B5F6A4AQ42392887-74FB57AB-42AC-4CD1-AD1E-AB8022671A93Q42561293-E60F74CE-52B3-4099-BCAE-81BAF295234FQ43844279-9C2E373C-28A2-4448-B3FD-9F1643EA1461Q44069015-A97B3207-CA6E-4EBF-AF2B-7E11FE2725C9Q44797332-D6F8DF7E-099F-4078-9A60-B0BAE711A52EQ47850664-1591FDC9-784B-41D9-964B-ACB6516B9205Q51718358-E11A5D1D-C361-4B88-97B8-3FBB301DA103
P2860
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The molecular basis of cystath ...... and on response to treatment.
@ast
The molecular basis of cystath ...... and on response to treatment.
@en
The molecular basis of cystath ...... and on response to treatment.
@nl
type
label
The molecular basis of cystath ...... and on response to treatment.
@ast
The molecular basis of cystath ...... and on response to treatment.
@en
The molecular basis of cystath ...... and on response to treatment.
@nl
prefLabel
The molecular basis of cystath ...... and on response to treatment.
@ast
The molecular basis of cystath ...... and on response to treatment.
@en
The molecular basis of cystath ...... and on response to treatment.
@nl
P2093
P2860
P356
P1476
The molecular basis of cystath ...... e and on response to treatment
@en
P2093
Cruysberg JR
Kluijtmans LA
Trijbels FJ
van den Heuvel LP
P2860
P356
10.1086/302439
P407
P50
P577
1999-07-01T00:00:00Z