Co-Authors
This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and CLAUDIA SOLER-ALFONSO.
Connection Strength
1.515
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L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency. Mol Genet Metab Rep. 2019 Jun; 19:100453.
Score: 0.686
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.
Score: 0.200
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Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):1-13.
Score: 0.193
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.
Score: 0.173
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 Jun; 25(6):100828.
Score: 0.057
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352.
Score: 0.056
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 06; 25(6):100314.
Score: 0.056
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153.
Score: 0.049
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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.
Score: 0.045