Procopio E - Search Results

1

A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

Frisso G, Gelzo M, Procopio E, Sica C, Lenza MP, Dello Russo A, Donati MA, Salvatore F, Corso G. Frisso G, et al. Among authors: procopio e. Mol Genet Metab. 2017 Aug;121(4):329-335. doi: 10.1016/j.ymgme.2017.06.013. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28673550

2

Communicating a Positive Result at Newborn Screening and Parental Distress.

Lastrucci E, Daniotti M, Procopio E, Scaturro G, Tubili F, Martin R, la Marca G. Lastrucci E, et al. Among authors: procopio e. Int J Neonatal Screen. 2023 Jul 14;9(3):38. doi: 10.3390/ijns9030038. Int J Neonatal Screen. 2023. PMID: 37489491 Free PMC article.

3

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

Nesti C, Ticci C, Rubegni A, Doccini S, Scaturro G, Vetro A, Guerrini R, Santorelli FM, Procopio E. Nesti C, et al. Among authors: procopio e. J Neurol. 2023 Jun;270(6):3266-3269. doi: 10.1007/s00415-023-11673-7. Epub 2023 Mar 20. J Neurol. 2023. PMID: 36939934 No abstract available.

4

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Ciof E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: procopio e. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.

5

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: procopio e. Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861. Rapid Commun Mass Spectrom. 2005. PMID: 15723447 No abstract available.

6

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: procopio e. Hum Mutat. 2007 Feb;28(2):204. doi: 10.1002/humu.9475. Hum Mutat. 2007. PMID: 17221873

7

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: procopio e. Pediatr Nephrol. 2008 Jan;23(1):155-8. doi: 10.1007/s00467-007-0588-x. Epub 2007 Aug 16. Pediatr Nephrol. 2008. PMID: 17701224

8

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

9

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Among authors: procopio e. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.

10

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A. Ferri L, et al. Among authors: procopio e. JIMD Rep. 2012;6:31-7. doi: 10.1007/8904_2012_125. Epub 2012 Feb 24. JIMD Rep. 2012. PMID: 23430936 Free PMC article.

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