ArticleFrontiers in genetics2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The trial behind it
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.BMC pediatrics · 2026Review
- Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.Molecular genetics and metabolism reports · 2025Article
- Perioperative Anesthetic Considerations in HMG-CoA Lyase Deficiency: Case Report and Literature Review.Journal of clinical medicine · 2025Article
- Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.Turkish archives of pediatrics · 2025Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).Genetics and molecular biology · 2025Article
- Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program.Molecular genetics and metabolism reports · 2024Article
- 3-Hydroxy-3-Methylglutaric Acid Disrupts Brain Bioenergetics, Redox Homeostasis, and Mitochondrial Dynamics and Affects Neurodevelopment in Neonatal Wistar Rats.Biomedicines · 2024Article
- Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.Molecular genetics & genomic medicine · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.The application of clinical genetics · 2024Article
- Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.Pediatric nephrology (Berlin, Germany) · 2023Article
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.