Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Laura Ingenito"'
Publikováno v:
Water
Volume 11
Issue 9
Water, Vol 11, Iss 9, p 1740 (2019)
Volume 11
Issue 9
Water, Vol 11, Iss 9, p 1740 (2019)
Water resource management is a topic of great environmental and social relevance, since water must be preserved and managed to avoid waste, providing high quality service at fair tariffs for the consumer, as imposed by the European Water Directive (2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2814a3a4d329b71d66c05b12eba3d4f1
http://hdl.handle.net/11580/76684
http://hdl.handle.net/11580/76684
Autor:
Margherita Ruoppolo, Diego Martinelli, Ferdinando Ceravolo, Carlo Dionisi-Vici, Anna Pastore, Laura Ingenito, Gianna Di Giovamberardino, Marianna Caterino, Maria Grazia Strozziero, Emanuela Scolamiero, Sara Boenzi, Esther Imperlini
Publikováno v:
Journal of Inherited Metabolic Disease. 38:969-979
Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is often unsatisfactory, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb82c20b9d60d691550b136dc1912309
https://doi.org/10.1007/s10545-014-9806-4
https://doi.org/10.1007/s10545-014-9806-4
Autor:
Maria Grazia di Girolamo, Laura Ingenito, Giovanna Gallo, Emanuela Scolamiero, R. Pecce, Guglielmo Rosario Domenico Villani, Cristina Di Stefano, Marianna Caterino, Lucia Albano, Ignazio Franzese, Margherita Ruoppolo
Publikováno v:
Clinical Biochemistry. 47:312-317
Objectives Besides the inherited form, vitamin B 12 deficiency may be due to diet restrictions or abnormal absorption. The spread of newborn screening programs worldwide has pointed out that non-inherited conditions are mainly secondary to a maternal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0350340dc6b8436e0bd047c699539ff3
https://doi.org/10.1016/j.clinbiochem.2014.08.020
https://doi.org/10.1016/j.clinbiochem.2014.08.020
Autor:
Kristina Cusmano-Ozog, Marianna Caterino, Kenneth Dorko, Stephen C. Strom, Esther Imperlini, Randy J. Chandler, Emanuela Scolamiero, Margherita Ruoppolo, Jennifer L. Sloan, Laura Ingenito, Charles P. Venditti
Methylmalonic acidemia (MMA) is a heterogeneous and severe autosomal recessive inborn error of metabolism most commonly caused by the deficient activity of the vitamin B12 dependent enzyme, methylmalonyl-CoA mutase (MUT). The main treatment for MMA p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57ae71e463874fc42b7891f46b3485d
https://hdl.handle.net/11588/636580
https://hdl.handle.net/11588/636580
Autor:
Maria Grazia di Girolamo, Antonella Norma, Massimo Siano, Carla Cozzolino, Roberta Romanelli, Giovanna Gallo, Antonella Ansalone, Cristina Di Stefano, Graziella Corbo, Basilio Malamisura, Generoso Andria, Laura Ingenito, Giovanni Franzese, Giulia Frisso, Paolo Giliberti, Teodoro Stoduto, Silvana Pellecchia, Guglielmo R. D. Villani, Giancarlo Parenti, Francesco Salvatore, Ippolito Pierucci, Ignazio Franzese, Lucia Albano, Giovanni Ippolito, Marianna Caterino, Emanuela Scolamiero, Pietro Mazzeo, Margherita Ruoppolo, Daniela Ombrone, Adriano Durante, Anna Rossi, R. Pecce
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-prod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d4eb6b01f0f1f639f86ef93231165f
http://hdl.handle.net/11588/599587
http://hdl.handle.net/11588/599587
Autor:
Irma Dianzani, Margherita Ruoppolo, Laura Ingenito, Marianna Caterino, Esther Imperlini, Claudio Santoro, Anna Aspesi, Daniela Pagnozzi, Elisa Pavesi
Publikováno v:
Proteomics. 14(20)
Diamond-Blackfan anemia, characterized by defective erythroid progenitor maturation, is caused in one-fourth of cases by mutations of ribosomal protein S19 (RPS19), which is a component of the ribosomal 40S subunit. Our previous work described protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6cdb3c9c5761e089b2cb32dc9b5c5f
https://pubmed.ncbi.nlm.nih.gov/25069755
https://pubmed.ncbi.nlm.nih.gov/25069755
Objectives Patients affected by Phenylketonuria (PKU) require lifelong management based on phenylalanine (Phe) and tyrosine (Tyr) restricted intake or tetrahydrobiopterin (BH4) administration. Frequent monitoring of blood concentration of both amino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e9003c10cb761890502dc7706bcae6
http://hdl.handle.net/11588/567294
http://hdl.handle.net/11588/567294