Papadia F - Search Results

1

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A. Valayannopoulos V, et al. Among authors: papadia f. Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Orphanet J Rare Dis. 2016. PMID: 27030250 Free PMC article. Clinical Trial.

2

Short-term survival of hyperammonemic neonates treated with dialysis.

Picca S, Dionisi-Vici C, Bartuli A, De Palo T, Papadia F, Montini G, Materassi M, Donati MA, Verrina E, Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F. Picca S, et al. Among authors: papadia f. Pediatr Nephrol. 2015 May;30(5):839-47. doi: 10.1007/s00467-014-2945-x. Epub 2014 Sep 4. Pediatr Nephrol. 2015. PMID: 25185886

3

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: papadia f. 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.

4

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A. Catarzi S, et al. Among authors: papadia f. Mol Genet Metab. 2012 Mar;105(3):438-42. doi: 10.1016/j.ymgme.2011.11.196. Epub 2011 Dec 2. Mol Genet Metab. 2012. PMID: 22178352

5

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators. Cohn GM, et al. Eur J Pediatr. 2013 Jul;172(7):965-70. doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7. Eur J Pediatr. 2013. PMID: 23468122 Free PMC article.

6

Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.

Tummolo A, Favia V, Bellantuono R, Bellino V, Ranieri A, Morrone A, De Palo T, Papadia F. Tummolo A, et al. Among authors: papadia f. Pediatr Emerg Care. 2013 May;29(5):656-8. doi: 10.1097/PEC.0b013e31828ec2b9. Pediatr Emerg Care. 2013. PMID: 23640148

7

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

8

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: papadia f. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

9

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Ortolani F, Piccinno E, Grasso V, Papadia F, Panzeca R, Cortese C, Felappi B, Tummolo A, Vendemiale M, Barbetti F. Ortolani F, et al. Among authors: papadia f. Acta Diabetol. 2016 Jun;53(3):499-501. doi: 10.1007/s00592-015-0793-1. Epub 2015 Aug 4. Acta Diabetol. 2016. PMID: 26239141 Free PMC article. No abstract available.

10

High rate of spontaneous normalization of celiac serology in a cohort of 446 children with type 1 diabetes: a prospective study.

Castellaneta S, Piccinno E, Oliva M, Cristofori F, Vendemiale M, Ortolani F, Papadia F, Catassi C, Cavallo L, Francavilla R. Castellaneta S, et al. Among authors: papadia f. Diabetes Care. 2015 May;38(5):760-6. doi: 10.2337/dc14-2890. Epub 2015 Mar 17. Diabetes Care. 2015. PMID: 25784659

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