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Concetta Meli

Showing results (11-20 of 20) with videos related to

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Biomedicines|July 29, 2023
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation SequencingElisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, et al.
Clinical Pharmacokinetics|November 26, 2008
Pharmacokinetics of sapropterin in patients with phenylketonuriaFrançois Feillet, Lorne Clarke, Concetta Meli, et al.
Experimental & Molecular Medicine|December 1, 2009
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemicsFrancesco Cali, Giuseppa Ruggeri, Mirella Vinci, et al.
American Journal of Medical Genetics. Part A|October 21, 2011
Clinical manifestations and management of four children with Pearson syndromeManuela Tumino, Concetta Meli, Piero Farruggia, et al.
Nutrients|September 13, 2025
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient MonitoringManuela Lo Bianco, Roberta Leonardi, Alessia Migliore, et al.
Nutrients|February 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-UpMaria Chiara Consentino, Luisa La Spina, Concetta Meli, et al.
Nutrients|February 26, 2025
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the LiteratureGuido Leone, Concetta Meli, Raffaele Falsaperla, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.
International Journal of Neonatal Screening|August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Biomedicines|July 29, 2023
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation SequencingElisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, et al.
Clinical Pharmacokinetics|November 26, 2008
Pharmacokinetics of sapropterin in patients with phenylketonuriaFrançois Feillet, Lorne Clarke, Concetta Meli, et al.
Experimental & Molecular Medicine|December 1, 2009
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemicsFrancesco Cali, Giuseppa Ruggeri, Mirella Vinci, et al.
American Journal of Medical Genetics. Part A|October 21, 2011
Clinical manifestations and management of four children with Pearson syndromeManuela Tumino, Concetta Meli, Piero Farruggia, et al.
Nutrients|September 13, 2025
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient MonitoringManuela Lo Bianco, Roberta Leonardi, Alessia Migliore, et al.
Nutrients|February 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-UpMaria Chiara Consentino, Luisa La Spina, Concetta Meli, et al.
Nutrients|February 26, 2025
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the LiteratureGuido Leone, Concetta Meli, Raffaele Falsaperla, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.
International Journal of Neonatal Screening|August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.
Pageof 2