×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Cystathionine beta-synthase mutations in homocystinuria .10338090 1999
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria .
29526799 2018
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria .
9870207 1998
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency has been extensively studied, but to date, no spectrum of CBS mutations of Spanish homocystinuric patients has been reported.12815602 2003
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria .12124992 2002
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Cystathionine β-synthase -deficient homocystinuria (HCU ) is a poorly understood, life-threatening inborn error of sulfur metabolism.29101223 2018
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Homocystinuria (HCU ) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy).11011851 2000
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
15972722 2005
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
The most common cause of severely elevated homocysteine or homocystinuria is inherited disorders in cystathionine beta-synthase .
10531322 1999
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Cystathionine beta-synthase (CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria .14635102 2003
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.29326875 2018
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Deficiency in cystathionine beta synthase (CBS) enzyme sometimes leads to hyperhomocysteinemia/homocystinuria , conditions often associated with mental retardation (MR).
19429038 2009
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
27183385 2016
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Altered hepatic sulfur metabolism in cystathionine β-synthase -deficient homocystinuria : regulatory role of taurine on competing cysteine oxidation pathways.
24891521 2014
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Misfolding and aggregation of mutant enzymes have been proposed to play role in the pathogenesis of homocystinuria due to cystathionine β-synthase (CBS) deficiency.
20490928 2011
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
To determine this, parents of children who are homozygous for CbetaS deficiency (affected with homocystinuria ) and a control population were compared for tHcy, total plasma cysteine (tCys), plasma folate, and plasma vitamin B12.
9472972 1998
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
The genetic conditions are: (1) Homocystinuria due to cystathionine β-synthase (CBS) deficiency.
21308989 2011
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients.
29508359 2018
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria .
14722927 2004
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
A discrepancy has been identified between numbers of expected and identified patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency.
26750749 2016
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria .
20051935 2009
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria .
7762555 1995
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
Biomarker
BEFREE
Cystathionine-β-synthase (CBS) deficiency is the main cause of homocystinuria .25805165 2015
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria .15993874 2005
×
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
Homocystinuria
0.300
GeneticVariation
BEFREE
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
17072863 2007