Donati MA - Search Results

1

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Gasperini S, Stagi S, Gasperini U, Guerrini R, la Marca G, Donati MA. Gasperini S, et al. Among authors: donati ma. Pediatr Nephrol. 2010 Nov;25(11):2373-4. doi: 10.1007/s00467-010-1557-3. Epub 2010 Jun 2. Pediatr Nephrol. 2010. PMID: 20517618 No abstract available.

2

Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Pela I, Donati MA, Procopio E, Fiorini P. Pela I, et al. Among authors: donati ma. Pediatr Nephrol. 2008 Jan;23(1):155-8. doi: 10.1007/s00467-007-0588-x. Epub 2007 Aug 16. Pediatr Nephrol. 2008. PMID: 17701224

3

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: donati ma. Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782672 Free PMC article.

4

Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

Micheletti MV, Lavoratti G, Gasperini S, Donati MA, Pela I. Micheletti MV, et al. Among authors: donati ma. Clin Nephrol. 2011 Jul;76(1):68-73. doi: 10.5414/cn106681. Clin Nephrol. 2011. PMID: 21722608

5

Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.

Pela I, Gasperini S, Pasquini E, Donati MA. Pela I, et al. Among authors: donati ma. Clin Nephrol. 2006 Jul;66(1):63-6. doi: 10.5414/cnp66063. Clin Nephrol. 2006. PMID: 16878438

6

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

la Marca G, Malvagia S, Pasquini E, Donati MA, Gasperini S, Procopio E, Zammarchi E. la Marca G, et al. Among authors: donati ma. Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861. Rapid Commun Mass Spectrom. 2005. PMID: 15723447 No abstract available.

7

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.

Malvagia S, La Marca G, Casetta B, Gasperini S, Pasquini E, Donati MA, Zammarchi E. Malvagia S, et al. Among authors: donati ma. J Mass Spectrom. 2006 Feb;41(2):263-5. doi: 10.1002/jms.964. J Mass Spectrom. 2006. PMID: 16421867 No abstract available.

8

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Cavicchi C, Malvagia S, la Marca G, Gasperini S, Donati MA, Zammarchi E, Guerrini R, Morrone A, Pasquini E. Cavicchi C, et al. Among authors: donati ma. J Pharm Biomed Anal. 2009 Jul 12;49(5):1292-5. doi: 10.1016/j.jpba.2009.03.001. Epub 2009 Mar 20. J Pharm Biomed Anal. 2009. PMID: 19359120

9

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: donati ma. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.

10

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A. Ferri L, et al. Among authors: donati ma. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009

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