The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

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http://www.wikidata.org/entity/Q44069015
Environmental influences on familial discordance of phenotype in people with homocystinuria: a case reportNovel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.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 familyGuidelines for the diagnosis and management of cystathionine beta-synthase deficiency.A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?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.Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
P2860

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Item
http://www.wikidata.org/entity/Q44069015
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
The molecular basis of cystath ...... ons and response to treatment.
@en
The molecular basis of cystath ...... ons and response to treatment.
@nl
type
label
The molecular basis of cystath ...... ons and response to treatment.
@en
The molecular basis of cystath ...... ons and response to treatment.
@nl
prefLabel
The molecular basis of cystath ...... ons and response to treatment.
@en
The molecular basis of cystath ...... ons and response to treatment.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
The molecular basis of cystath ...... ons and response to treatment.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698