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Homocystinuria
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CBS
MMACHC
MMADHC
MTR
MTRR
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
vitamin binding
tetrapyrrole binding
modified amino acid binding
sulfur amino acid metabolic process
vitamin metabolic process
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Curated Studies
Most Correlated Studies
OMIM - Anemia disorders
OMIM - Inherited methylmalonic acidemia and homocystinuria
OMIM - Disorder of amino acid metabolism
Mouse Phenotypes - Disorder of sulfur-bearing amino acid metabolism
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Homocystinuria and ocular complications - A review.
The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate red…
The Spectrum of Mutations of Homocystinuria in the MENA Region.
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Clinical Trials
Most Relevant Clinical Trials
Homocystinuria: Treatment With N-Acetylcysteine
Betaine METABOLISM OF PATIENTS With Homocystinuria
Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
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