C. Meli

发表

Evidence for genetic heterogeneity in D‐2‐hydroxyglutaric aciduria

B. Maranda, J. Abdenur, S. Korman, 2010, Human mutation.

Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

N. Blau, A. Burlina, P. Strisciuglio, 2010, Clinical genetics.

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

R. Barone, G. Sorge, A. Fiumara, 2018, International journal of neonatal screening.

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

P. Bosco, P. Guldberg, V. Romano, 1993, Human molecular genetics.

Neurotransmitter amino acid levels in rat thalamus and cerebral cortex after cerebellectomy

F. Cicirata, M. Serapide, V. Sorrenti, 1991, International Journal of Developmental Neuroscience.

Nutritional and racial determinants of the increase in plasma homocysteine levels after methionine loading

M. Malaguarnera, R. Chillemi, S. Musumeci, 2002 .

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.

M. D’Amato, F. Calì, V. Romano, 2001, Molecular genetics and metabolism.

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

P. Bosco, P. Guldberg, F. Calì, 1996, Journal of Inherited Metabolic Disease.

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

P. Pavone, A. Fiumara, A. Sapuppo, 2022, Global medical genetics.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

A. Angeloni, I. Bucci, C. Dionisi-Vici, 2022, International journal of neonatal screening.

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

S. Mooney, R. Guerrini, J. Thusberg, 2012, Gene.

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, I. Dianzani, V. Romano, 1998, American journal of human genetics.

Levels of L-asparagine in CSF after intramuscular administration of asparaginase from Erwinia in children with acute lymphoblastic leukemia.

R. Ragusa, A. Di Cataldo, L. Lo Nigro, 1995, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Autism and Phenylketonuria

M. Coleman, L. Pavone, A. Fiumara, 2003, Journal of autism and developmental disorders.

D. Tregouet, P. Morange, A. Gozzini, 2021, Clinical epigenetics.

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

A. Fiumara, A. Arena, C. Meli, 2020, International journal of neonatal screening.

Hyperprolinemia Type IA: Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

M. Ruggieri, P. Pavone, R. Rizzo, 2017 .

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

J. Häberle, M. Vilaseca, R. Parini, 2010, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Nenad Blau, Roberto Cerone, N. Blau, 2013, Pediatrics.

Maternal exposure to the antiepileptic drug vigabatrin affects postnatal development in the rat

M. Cioni, L. Mazzone, I. Vincenti, 2005, Neurological Sciences.

Genotype–phenotype correlation in dihydropteridine reductase deficiency

I. Dianzani, N. Blau, T. Coşkun, 2000, Journal of Inherited Metabolic Disease.

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample

A. Casabona, R. Barone, R. Rizzo, 2023, Children.

Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency

N. Blau, G. Ferrero, M. Spada, 1996 .

Clinical manifestations and management of four children with Pearson syndrome

A. Di Cataldo, L. Lo Nigro, M. Faraci, 2011, American journal of medical genetics. Part A.

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

A. Fiumara, C. Meli, MariaAnna Messina, 2021, Clinica chimica acta; international journal of clinical chemistry.

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

S. Petralia, S. Cavallaro, M. Ruggieri, 2023, Biomedicines.

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

G. Biasucci, Evelina Maines, A. Bordugo, 2022, European Review for Medical and Pharmacological Sciences.

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

D. Mould, P. Harmatz, L. Clarke, 2008, Clinical pharmacokinetics.

Targeted Metabolomics Analysis in Follow-up of Classic and Mild PKU using LC-ESI-MS/MS: Assessment of Metabolic Control through PHE/TYR ratio

A. Fiumara, C. Meli, MariaAnna Messina, 2020, Biomedical Journal of Scientific & Technical Research.

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

F. Calì, V. Romano, M. Vinci, 2010, Experimental & Molecular Medicine.

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

N. Blau, M. Couce, S. Keil, 2013, Pediatrics.