ArticleInternational journal of molecular sciences2025
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.
Donatella Gilio, Caterina Pelosini, Silvia Magno, Jacopo Maria Venanzi, Marta Daniotti, Melania Paoli, Lavinia Palladino, Maria Rita Sessa, Franco Ricci, Elena Procopio and 2 more
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In one paragraphArticle in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
12 authors.
Donatella GilioObesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.
Caterina PelosiniChemistry and Endocrinology Laboratory, University Hospital of Pisa, 56124 Pisa, Italy.
Silvia MagnoObesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.ORCID 0000-0002-8705-6554 Jacopo Maria VenanziMetabolic and Neuromuscular Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.
Marta DaniottiMetabolic and Neuromuscular Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.
Melania PaoliChemistry and Endocrinology Laboratory, University Hospital of Pisa, 56124 Pisa, Italy.
Lavinia PalladinoObesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.
Maria Rita SessaChemistry and Endocrinology Laboratory, University Hospital of Pisa, 56124 Pisa, Italy.ORCID 0000-0003-2839-370X Franco RicciDiabetology and Endocrinology Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.ORCID 0000-0002-3275-9113 Elena ProcopioMetabolic and Neuromuscular Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.ORCID 0000-0002-8534-9951 Giovanni CeccariniObesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.ORCID 0000-0003-0701-642X Ferruccio SantiniObesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, 56124 Pisa, Italy.ORCID 0000-0002-1706-0822 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the
Indexed as
LipodystrophyMitochondrial EncephalomyopathiesAdolescentFemaleHumansInsulin ResistanceMutationPhenotypeencephalomyopathyleptinlipodystrophyMNGIEthymidine phosphorylaseTYMP mutation
Identifiers
PMID41097015
PMCPMC12525126
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