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Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?
Children (Basel). 2022 Aug 3;9(8):1164. doi: 10.3390/children9081164.
Children (Basel). 2022.
PMID: 36010054
Free PMC article.
Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.
Piccinno E, Ortolani F, Vendemiale M, Tummolo A, Masciopinto M, Natale MP, De Luca A, Agolini E, Aloi C, Salina A, D'Annunzio G, Fischetto R, Papadia F.
Piccinno E, et al. Among authors: masciopinto m.
Clin Genet. 2014 Aug;86(2):197-8. doi: 10.1111/cge.12260. Epub 2013 Oct 3.
Clin Genet. 2014.
PMID: 24117146
No abstract available.
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Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
Tummolo A, Gabrielli O, Gaeta A, Masciopinto M, Zampini L, Pavone LM, Di Natale P, Papadia F.
Tummolo A, et al. Among authors: masciopinto m.
Case Rep Med. 2013;2013:891596. doi: 10.1155/2013/891596. Epub 2013 Nov 18.
Case Rep Med. 2013.
PMID: 24348578
Free PMC article.
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Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
Tummolo A, Melpignano L, Carella A, Di Mauro AM, Piccinno E, Vendemiale M, Ortolani F, Fedele S, Masciopinto M, Papadia F.
Tummolo A, et al. Among authors: masciopinto m.
J Med Case Rep. 2018 Apr 22;12(1):103. doi: 10.1186/s13256-018-1631-1.
J Med Case Rep. 2018.
PMID: 29679984
Free PMC article.
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Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Agazzi C, Magliozzi M, Iacoviello O, Palladino S, Delvecchio M, Masciopinto M, Galati A, Novelli A, Causio FA, Zampino G, Ruggiero C, Fischetto R.
Agazzi C, et al. Among authors: masciopinto m.
Mol Syndromol. 2023 Apr;14(2):158-163. doi: 10.1159/000527424. Epub 2022 Dec 23.
Mol Syndromol. 2023.
PMID: 37064340
Free PMC article.
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