Co-Authors
This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and CHARUL GIJAVANEKAR.
Connection Strength
1.278
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
Score: 0.248
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Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 Mar; 194(3):e63461.
Score: 0.243
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Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372.
Score: 0.230
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268.
Score: 0.209
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.195
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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40.
Score: 0.055
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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
Score: 0.054
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.045