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C. Meli · SciRah

Researcher profile · Semantic Scholar

C. Meli

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C. Meli — researcher profile on SciRah

h-index: 15
Works: 39
Citations: 1,088

Most-cited papers

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
P. Guldberg, F. Rey, J. Zschocke, V. Romano +12 more
1998American Journal of Human Genetics368 citations Open access
Semantic Scholar
Autism and Phenylketonuria
S. Baieli, L. Pavone, C. Meli, A. Fiumara +1 more
2003Journal of Autism and Developmental Disorders126 citations
Semantic Scholar
Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study
S. Keil, Karen Anjema, F. V. van Spronsen, N. Lambruschini +16 more
2013Pediatrics90 citations Open access
Semantic Scholar
Evidence for genetic heterogeneity in D‐2‐hydroxyglutaric aciduria
M. Kranendijk, E. Struys, K. Gibson, Wjera V. Wickenhagen +19 more
2010Human Mutation71 citations
Semantic Scholar
Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency
V. Leuzzi, C. Carducci, C. Carducci, S. Pozzessere +11 more
2010Clinical Genetics63 citations Open access
Semantic Scholar
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
M. Ruoppolo, S. Malvagia, S. Boenzi, C. Carducci +46 more
2022International Journal of Neonatal Screening57 citations Open access
Semantic Scholar
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.
J. Häberle, M. Vilaseca, C. Meli, M. Rigoldi +4 more
2010European Journal of Obstetrics, Gynecology, and Reproductive Biology37 citations
Semantic Scholar
Pharmacokinetics of Sapropterin in Patients with Phenylketonuria
F. Feillet, L. Clarke, C. Meli, M. Lipson +7 more
2008Clinical Pharmacokinetics37 citations
Semantic Scholar
Clinical manifestations and management of four children with Pearson syndrome
M. Tumino, C. Meli, P. Farruggia, M. La Spina +8 more
2011American Journal of Medical Genetics. Part A36 citations Open access
Semantic Scholar
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
S. Funghini, J. Thusberg, Marco Spada, S. Gasperini +9 more
2012Gene32 citations
Semantic Scholar
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample
Martina Randazzo, Adriana Prato, MariaAnna Messina, C. Meli +3 more
2023Children31 citations Open access
Semantic Scholar
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily
MariaAnna Messina, C. Meli, Federica Raudino, Annarita Pittalà +7 more
2018International Journal of Neonatal Screening17 citations Open access
Semantic Scholar
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
F. Calì, Giuseppa Ruggeri, M. Vinci, C. Meli +8 more
2010Experimental and Molecular Medicine15 citations Open access
Semantic Scholar
Maternal exposure to the antiepileptic drug vigabatrin affects postnatal development in the rat
S. A. Lombardo, G. Leanza, C. Meli, M. E. Lombardo +3 more
2005Neurological Sciences15 citations Open access
Semantic Scholar
Geographical distribution of phenylalanine hydroxylase alleles in Sicily
V. Romano, P. Bosco, V. Chiavetta, G. Fasulo +14 more
199315 citations
Semantic Scholar
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
C. Cavicchi, A. Oussalah, Silvia Falliano, L. Ferri +19 more
2021Clinical Epigenetics13 citations Open access
Semantic Scholar
Nutritional and racial determinants of the increase in plasma homocysteine levels after methionine loading
J. Simporé, S. Pignatelli, C. Meli, M. Malaguarnera +2 more
200212 citations
Semantic Scholar
Neurotransmitter amino acid levels in rat thalamus and cerebral cortex after cerebellectomy
F. Cicirata, C. Meli, C. Castorina, M. F. Serapide +4 more
1991International Journal of Developmental Neuroscience12 citations
Semantic Scholar
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
MariaAnna Messina, A. Arena, A. Fiumara, Riccardo Iacobacci +2 more
2020International Journal of Neonatal Screening8 citations Open access
Semantic Scholar
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia
P. Bosco, F. Calì, C. Meli, F. Mollica +6 more
1998Human Mutation8 citations Open access
Semantic Scholar
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
A. Burlina, I. Bettocchi, G. Biasucci, A. Bordugo +12 more
2022European Review for Medical and Pharmacological Sciences6 citations
Semantic Scholar
Late diagnosed phenylketonuria patients: clinical presentation and results of treatment
L. Pavone, C. Meli, F. Nigro, R. Lisi +2 more
19935 citations
Semantic Scholar
Hyperprolinemia Type IA: Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?
P. Pavone, A. Praticò, G. Sorge, C. Meli +3 more
20174 citations Open access
Semantic Scholar
Hyperphenylalaninemia and birth weight.
S. Bianca, C. Meli, B. Barrano, F. Mollica
2002Annales de Genetique3 citations
Semantic Scholar
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
E. Tendi, Giovanna Morello, M. Guarnaccia, Valentina La Cognata +6 more
2023Biomedicines2 citations Open access
Semantic Scholar
Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl
M. Pappalardo, A. Di Nora, A. Giugno, C. Meli +3 more
2022Global Medical Genetics2 citations Open access
Semantic Scholar
Auditory and visual evoked potentials in a 17-year-old boy with undiagnosed classical phenylketonuria
G. Corsello, M. Piccione, E. Piro, C. Meli +2 more
19932 citations
Semantic Scholar
New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.
MariaAnna Messina, Federica Raudino, Riccardo Iacobacci, C. Meli +1 more
2021Clinica chimica acta; international journal of clinical chemistry1 citations
Semantic Scholar
Exon deletions of the PAH gene in Italian hyperphenylalaninemics
V. Romano, M. Vinci, S. Miccichè, A. Ragalmuto +8 more
20101 citations
Semantic Scholar
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
C. Cavicchi, A. Oussalah, Silvia Falliano, L. Ferri +19 more
2021Clinical Epigenetics0 citations Open access
Semantic Scholar
Targeted Metabolomics Analysis in Follow-up of Classic and Mild PKU using LC-ESI-MS/MS: Assessment of Metabolic Control through PHE/TYR ratio
Federica Raudino, C. Meli, Riccardo Iacobacci, A. Fiumara +1 more
2020Biomedical Journal of Scientific & Technical Research0 citations Open access
Semantic Scholar
P016 Impact of liver transplant on metabolic profiles in children with inborn errors of protein metabolism
G. Ranucci, D. Martinelli, A. Maiorana, A. Liguori +16 more
2018Digestive and Liver Disease0 citations
Semantic Scholar
FOLLOW-UP AND OUTCOME OF PKU PATIENTS ON SAPROPTERIN/BH4-PRELIMINARY RESULTS OF A RETROSPECTIVE EUROPEAN MULTICENTER STUDY
S. Keil, Kern, Karen Anjema, Van Spronsen +13 more
20120 citations
Semantic Scholar
PKU in Italy
M. Giovannini, A. Burlina, M. Spada, R. Cerone +14 more
20120 citations
Semantic Scholar
Course of psychiatric disorders in a case of 6-Pyruvoyl-tetrahydropterin synthase deficiency
D. D’Agnano, C. Carducci, A. Marconi, C. Meli +1 more
20120 citations
Semantic Scholar
Exon Deletions in Pah Gene in Italian Hyperphenylalaninemic Patients
C. Carducci, F. Calì, S. Pozzessere, C. Artiola +8 more
20100 citations
Semantic Scholar
Mutations identified in D-2-hydroxyglutarate dehydrogenase in 14 out of 36 unrelated patients with D-2-hydroxyglutaric aciduria
G. Salomons, Ps Darmin, E. Struys, N. Verhoeven +10 more
20060 citations
Semantic Scholar
Dietary control of phenylketonuria.
C. Meli, S. Bianca
2002The Lancet0 citations Open access
Semantic Scholar
Dietetic tolerance in the differential diagnosis of hyperphenylalaninemias due to phenylalanine hydroxylase deficiency
F. Mollica, C. Meli, L. Lentini, S. Di Raimondo +1 more
19930 citations
Semantic Scholar

Frequent co-authors

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A. Fiumara×8
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V. Romano×7
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V. Leuzzi×6
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MariaAnna Messina×6
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Federica Raudino×4

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Federica Raudino — researcher profile on SciRah

Riccardo Iacobacci×4

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Riccardo Iacobacci — researcher profile on SciRah

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F. Calì — researcher profile on SciRah

V. Chiavetta×4

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V. Chiavetta — researcher profile on SciRah