Meli C - Search Results

1

Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Baieli S, et al. Among authors: meli c. J Autism Dev Disord. 2003 Apr;33(2):201-4. doi: 10.1023/a:1022999712639. J Autism Dev Disord. 2003. PMID: 12757360

2

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.

Messina M, Meli C, Raudino F, Pittalá A, Arena A, Barone R, Giuffrida F, Iacobacci R, Muccilli V, Sorge G, Fiumara A. Messina M, et al. Among authors: meli c. Int J Neonatal Screen. 2018 Apr 5;4(2):12. doi: 10.3390/ijns4020012. eCollection 2018 Jun. Int J Neonatal Screen. 2018. PMID: 33072938 Free PMC article.

3

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Fiumara A, van Kuilenburg AB, Caruso U, Nucifora C, Marzullo E, Barone R, Meli C, van Gennip AH. Fiumara A, et al. Among authors: meli c. J Inherit Metab Dis. 2003;26(4):407-9. doi: 10.1023/a:1025123622821. J Inherit Metab Dis. 2003. PMID: 12971429

4

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Messina M, Arena A, Fiumara A, Iacobacci R, Meli C, Raudino F. Messina M, et al. Among authors: meli c. Int J Neonatal Screen. 2020 Jul 28;6(3):58. doi: 10.3390/ijns6030058. Int J Neonatal Screen. 2020. PMID: 33239584 Free PMC article.

5

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Pappalardo MG, Di Nora A, Giugno A, Meli C, Sapuppo A, Pavone P, Fiumara A. Pappalardo MG, et al. Among authors: meli c. Glob Med Genet. 2022 Sep 19;9(3):247-251. doi: 10.1055/s-0042-1756661. eCollection 2022 Sep. Glob Med Genet. 2022. PMID: 36132999 Free PMC article.

6

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.

Messina M, Raudino F, Iacobacci R, Meli C, Fiumara A. Messina M, et al. Among authors: meli c. Clin Chim Acta. 2021 Sep;520:154-159. doi: 10.1016/j.cca.2021.06.011. Epub 2021 Jun 9. Clin Chim Acta. 2021. PMID: 34116006

7

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P. Romano V, et al. Among authors: meli c. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

8

[Neuronal ceroid lipofuscinosis. Description of a case].

Fiumara A, Nardone G, Nigro F, Meli C, Siciliano L, Gullotta F. Fiumara A, et al. Among authors: meli c. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Pediatr Med Chir. 1987. PMID: 3444750 Italian.

9

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Keil S, et al. Among authors: meli ca. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520

10

Hyperphenylalaninemia and birth weight.

Bianca S, Meli C, Barrano B, Mollica F. Bianca S, et al. Among authors: meli c. Ann Genet. 2002 Jul-Sep;45(3):105-7. doi: 10.1016/s0003-3995(02)01127-9. Ann Genet. 2002. PMID: 12381438

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