Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
THAP11 function has not been fully characterized.
Methylmalonic aciduria and homocystinuria, cb1L type is associated with mutations in the THAP11 gene on chromosome 16.
Genetic testing for THAP11 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for methylmalonic aciduria and homocystinuria, cb1L type.
22 publications have been identified in PubMed for methylmalonic aciduria and homocystinuria, cb1L type. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (32%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 45% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
Laboratory research |
7 |
32% |
Research summaries | 3 | 14% |
Disease patterns and progression | 2 | 9% |
Cui X (2026). [PMID: 42065149](https://pubmed.ncbi.nlm.nih.gov/42065149/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
Ferreira DSM (2026). [PMID: 42115646](https://pubmed.ncbi.nlm.nih.gov/42115646/). *Nat Commun*. [Basic Science / Preclinical]
Wang Q (2026). [PMID: 41890422](https://pubmed.ncbi.nlm.nih.gov/41890422/). *Frontiers in psychiatry*. [Case Report / Case Series]
Longo L (2025). [PMID: 40441036](https://pubmed.ncbi.nlm.nih.gov/40441036/). *Molecular genetics and metabolism*. [Case Report / Case Series]
Hao L (2025). [PMID: 40544542](https://pubmed.ncbi.nlm.nih.gov/40544542/). *Molecular genetics and metabolism*. [Basic Science / Preclinical]
Mondesert E (2025). [PMID: 39916850](https://pubmed.ncbi.nlm.nih.gov/39916850/). *Heliyon*. [Case Report / Case Series]
Handoom B (2025). [PMID: 41250200](https://pubmed.ncbi.nlm.nih.gov/41250200/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
Huang S (2025). [PMID: 41440809](https://pubmed.ncbi.nlm.nih.gov/41440809/). *International journal of neonatal screening*. [Review / Meta-Analysis]
Zhao W (2025). [PMID: 40830795](https://pubmed.ncbi.nlm.nih.gov/40830795/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Chern T (2025). [PMID: 40411980](https://pubmed.ncbi.nlm.nih.gov/40411980/). *Differentiation; research in biological diversity*. [Basic Science / Preclinical]