Associated Papers
Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.
Michieletto P et al.
Genes, 2025
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
Rafat C et al.
Clinical Kidney Journal, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
Guéant JL et al.
Human Genetics, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Oussalah A et al.
Clinical Epigenetics, 2022
Cis-Acting Factors Causing Secondary Epimutations: Impact on the Risk for Cancer and Other Diseases.
Ruiz de la Cruz M et al.
Cancers, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C et al.
Clinical Epigenetics, 2021
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL et al.
Nature Communications, 2018
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