Pages that link to "Q994859"
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The following pages link to homocystinuria (Q994859):
Displayed 50 items.
- betaine (Q10860583) (← links)
- CBS (Q14913093) (← links)
- methylmalonic aciduria and homocystinuria type cblD (Q18553421) (← links)
- Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report (Q21202129) (← links)
- Newborn screening for homocystinuria (Q24186659) (← links)
- Newborn screening for homocystinuria (Q24200621) (← links)
- Newborn screening for homocystinuria (Q24234068) (← links)
- Newborn screening for homocystinuria (Q24235060) (← links)
- Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria (Q24317481) (← links)
- A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype (Q24672659) (← links)
- The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations (Q24673176) (← links)
- Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature (Q26796387) (← links)
- Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria (Q28118700) (← links)
- Cystathionine beta-synthase mutations in homocystinuria (Q28144473) (← links)
- CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families (Q28205877) (← links)
- Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency (Q28207658) (← links)
- A case of young adult presenting with cerebral infarction caused by homocystinuria (Q28210452) (← links)
- The Molecular Defect in a Case of (Cystathionine beta-Synthase)-Deficient Homocystinuria (Q28235837) (← links)
- Komrower Lecture. Molecular basis of phenotype expression in homocystinuria (Q28241304) (← links)
- Molecular defect in a patient with pyridoxine-responsive homocystinuria (Q28261569) (← links)
- Homocystinuria, a possible solution of the Akhenaten's mystery (Q28280063) (← links)
- Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria (Q28285543) (← links)
- Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11 (Q28289767) (← links)
- Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria (Q28306905) (← links)
- Application of new fluorescent thiol reagent to diagnosis of homocystinuria (Q28323024) (← links)
- Homocystinuria: pathogenetic mechanisms (Q28324171) (← links)
- Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading (Q28364221) (← links)
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria (Q28365393) (← links)
- Maternal homocystinuria: studies of an untreated mother and fetus (Q28367267) (← links)
- Cystadane (Q29005687) (← links)
- methylenetetrahydrofolate reductase deficiency (Q30643222) (← links)
- Management of ophthalmic complications of homocystinuria (Q31993027) (← links)
- Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings (Q32127759) (← links)
- Postoperative secondary glaucoma and anterior staphyloma in a patient with homocystinuria. (Q33222243) (← links)
- Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria (Q33400399) (← links)
- cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. (Q33406017) (← links)
- Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis (Q33491892) (← links)
- Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways (Q33576231) (← links)
- Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency (Q33585460) (← links)
- Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria (Q33585609) (← links)
- Dystonia in homocystinuria (Q33631376) (← links)
- Ocular complications in homocystinuria--early and late treated (Q33647202) (← links)
- Homocystinuria presenting as central retinal artery occlusion and longstanding thromboembolic disease (Q33648442) (← links)
- Lens fringe in homocystinuria (Q33649480) (← links)
- Homocystinuria: Challenges in diagnosis and management (Q33697408) (← links)
- Reduction of false negative results in screening of newborns for homocystinuria (Q33774974) (← links)
- Vasospasmus: a rare manifestation of homocystinuria (Q33872319) (← links)
- Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria (Q33890594) (← links)
- Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism (Q33902343) (← links)
- Homocystinuria. Review of four cases (Q33971428) (← links)