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Sfoglia per RIVISTA
MOLECULAR GENETICS AND METABOLISM
Collezione AOU Città della Salute di Torino

Items : 4

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders. in Molecular genetics and metabolism / Mol Genet Metab. 2025 Mar;144(3):109050. doi: 10.1016/j.ymgme.2025.109050. Epub 2025 Feb 4.

2025
AOU Città della Salute di Torino

Ferrero E; Vaz FM; Cheillan D; Brusco A; Marelli C;

The diagnostic challenge of mild citrulline elevation at newborn screening. in Molecular genetics and metabolism / Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20.

2022
AOU Città della Salute di Torino

Rossi C; Novelli A; Lepri FR; La Marca G; Giovanniello T; Cotugno G; Di Michele S; Carducci C; Cairoli S; Olivieri G; Angeloni A; Siri B; Semeraro M; Dionisi-Vici C;

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. in Molecular genetics and metabolism / Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24.

2020
AOU Città della Salute di Torino

Manti F; Nardecchia F; Banderali G; Burlina A; Carducci C; Carducci C; Donati MA; Gueraldi D; Paci S; Pochiero F; Porta F; Ortolano R; Rovelli V; Schiaffino MC; Spada M; Blau N; Leuzzi V; Manti F; Nardecchia F; Banderali G; Burlina A; Carducci C; Carducci C; Donati MA; Gueraldi D; Paci S; Pochiero F; Porta F; Ortolano R; et alii...

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. in Molecular genetics and metabolism / Mol Genet Metab. 2018 Jul;124(3):210-215. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.

2018
AOU Città della Salute di Torino

Spada M; Iacovelli F; Ciminelli BM; Capo C; Leo S; Porta F; Puccinelli MP; Vesco S; Vittorini R; Biamino E; Menduti G; Falconi M; Malaspina P; Rossi L; Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L;