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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 1
2007 1
2008 2
2009 2
2011 1
2012 3
2013 4
2014 4
2015 6
2016 3
2017 5
2018 2
2019 1
2020 1
2021 3
2022 2
2023 3
2024 0

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39 results

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Page 1
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report.
Cattaneo V, Caccioppola A, Colombo SM, Scaravilli V, Tubiolo D, Crotti S, Bosone M, Rafaniello Raviele P, Olmeda E, Menni F, Furlan F, Rossetti V, Damarco F, Panigada M, Grasselli G. Cattaneo V, et al. Among authors: menni f. Transplant Proc. 2023 Oct;55(8):1991-1994. doi: 10.1016/j.transproceed.2023.07.003. Epub 2023 Aug 2. Transplant Proc. 2023. PMID: 37537075
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: menni f. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Among authors: menni f. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.
Paoletti M, Pichiecchio A, Colafati GS, Conte G, Deodato F, Gasperini S, Menni F, Furlan F, Rubert L, Triulzi FM, Cinnante C. Paoletti M, et al. Among authors: menni f. Front Neurol. 2020 Nov 25;11:569153. doi: 10.3389/fneur.2020.569153. eCollection 2020. Front Neurol. 2020. PMID: 33329311 Free PMC article.
39 results