Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Treatment of Inherited Homocystinurias

2 Nov 2012

Abstract excerpt

Inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distinctive clinical entities: classical homocystinuria due to cystathionine β-synthase (CBS) deficiency and the rare inborn errors of cobalamin and folate metabolism. In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Enzymes and Metabolism
Share to Folate and B Vitamins Research
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23124942
DOI: 10.1055/s-0032-1329883

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Treatment of Inherited HomocystinuriasPMID 23124942Read ↗

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registrySemantic proximity Read ↗

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencySemantic proximity Read ↗

The Spectrum of Mutations of Homocystinuria in the MENA Region.Semantic proximity Read ↗

Inherited disorders in the conversion of methionine to homocysteineSemantic proximity Read ↗

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Semantic proximity Read ↗

Hypermethioninemias of genetic and non‐genetic origin: A reviewSemantic proximity Read ↗

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomesSemantic proximity Read ↗

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialistsSemantic proximity Read ↗

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Semantic proximity Read ↗

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.Semantic proximity Read ↗

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defectsSemantic proximity Read ↗

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrumSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.