Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation.
Kühn S et al.
Computational and Structural Biotechnology Journal, 2023
Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.
Liu X et al.
Frontiers in Neurology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
Zaki OK et al.
Human Molecular Genetics, 2017
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML et al.
Journal of Human Genetics, 2017
Polyunsaturated fatty acid status in treated isovaleric acidemia patients.
Dercksen M et al.
European Journal of Clinical Nutrition, 2016
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
Sakamoto O et al.
The Tohoku Journal of Experimental Medicine, 2015
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK et al.
European Journal of Medical Genetics, 2014
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
Hertecant JL et al.
European Journal of Medical Genetics, 2012
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
Dercksen M et al.
Journal of Inherited Metabolic Disease, 2012
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