Associated Papers
Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Jasinge E et al.
Laboratory Medicine, 2022
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_LOVD
Fumarase deficiency in dichorionic diamniotic twins.
Tregoning S et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2013
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