← Back to Conditions

Homocystinuria

disorder
SNOMED 11282001CUI C0019880

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Betaine

substance

Betaine hydrochloride

substance

Betaine citrate

substance

Clinical Trials

1
Total Trials
0
Recruiting
0
With Results

Recent Trials

Evaluation of the Express Plus Range

NCT05051657N/ACompleted28 enrolled
View all 1 trials on ClinicalTrials.gov

Research Evidence

Peer-reviewed studies linked via MeSH term "Homocystinuria" from the MEDLINE/PubMed database.

Sort:
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2024
PMID: 38245797Meta-AnalysisFull text (PMC)
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
[object Object], [object Object], [object Object] et al. · Hum Genet · 2022
PMID: 34652574Meta-Analysis
Livedoid vasculopathy and its association with genetic variants: A systematic review.
[object Object], [object Object] · Int Wound J · 2021
PMID: 33686673Meta-AnalysisFull text (PMC)
Association between MTHFR polymorphisms (MTHFR C677T, MTHFR A1298C) and recurrent implantation failure: a systematic review and meta-analysis.
[object Object], [object Object], [object Object] et al. · Arch Gynecol Obstet · 2021
PMID: 33128585Meta-Analysis
SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis.
[object Object], [object Object], [object Object] et al. · Biosci Rep · 2020
PMID: 32124929Meta-AnalysisFull text (PMC)
Associations between Folate Metabolism Enzyme Polymorphisms and Lung Cancer: A Meta-Analysis.
[object Object], [object Object], [object Object] et al. · Nutr Cancer · 2020
PMID: 31661627Meta-Analysis
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2017
PMID: 27778219Meta-AnalysisFull text (PMC)
Ocular Pseudoexfoliation Syndrome Linkage to Cardiovascular Disease.
[object Object], [object Object], [object Object] et al. · Curr Cardiol Rep · 2016
PMID: 27216841Meta-Analysis
Newborn screening for homocystinuria.
[object Object], [object Object], [object Object] · Cochrane Database Syst Rev · 2015
PMID: 26423208Meta-AnalysisFull text (PMC)
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2015
PMID: 25762406Meta-AnalysisFull text (PMC)
Search all PubMed articles for Homocystinuria

Research data from MEDLINE/PubMed

Related Conditions

Homocystinuria vitamin B12-responsive type III(child)
Methylene THF reductase deficiency AND homocystinuria(child)
Inherited methylmalonic acidemia AND homocystinuria(child)
Homocystinuria without methylmalonic aciduria(child)
Disorder of sulphur-bearing amino acid metabolism(parent)

Quick Facts

SNOMED CT
11282001
UMLS CUI
C0019880
Fully Specified Name
Homocystinuria (disorder)
Specialists
0
Diagnostic Biomarkers
0
Known Treatments
3
Clinical Trials
1
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.