Associated Papers
Corrigendum to "A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature".
Unknown Author
Case Reports in Genetics, 2025
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.
Puvabanditsin S et al.
Case Reports in Genetics, 2024
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
Taura Y et al.
Human Genome Variation, 2023
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS et al.
Genes, 2023
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.
Wang J et al.
Frontiers in Pharmacology, 2021
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels CS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama AM et al.
American Journal of Medical Genetics. Part A, 2020
Select a paper to view details