Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Marianna, Alagia"'
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Autor:
Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 11-16 (2020)
Abstract Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related dis
Externí odkaz:
https://doaj.org/article/73406ef2db4c499baafe195db30a6cd1
Autor:
Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso
Publikováno v:
Genes; Volume 14; Issue 5; Pages: 980
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bba07e2bfd58e6f5f2bdd4d99e488da
Autor:
Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0184022 (2017)
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of
Externí odkaz:
https://doaj.org/article/773b8ac44ff3496c8ad3d8a7f2464672
Autor:
Michele Pinelli, Annalaura Torella, Nicola Brunetti-Pierri, Marianna Alagia, Bruno Corrado, Brunella Franco, Vincenzo Nigro, Ennio Del Giudice, Gerarda Cappuccio, Tudp, Alessandra D'Amico, Diletta Apuzzo
Publikováno v:
American Journal of Medical Genetics. Part a
Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding diffic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a362386a8bc6d1aa0efef5d42c7b5101
https://doi.org/10.1002/ajmg.a.61536
https://doi.org/10.1002/ajmg.a.61536
Autor:
Nicola Brunetti-Pierri, Gerarda Cappuccio, Vincenzo Nigro, Alfonso Romano, Alessandra D'Amico, Simona Fecarotta, Marianna Alagia, Giorgio Casari, Annalaura Torella, Tudp, Federica Mazio
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 11-16 (2020)
JIMD Reports
JIMD Reports
Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df89b38b34980d0cd8023b071a95f06
https://doaj.org/article/73406ef2db4c499baafe195db30a6cd1
https://doaj.org/article/73406ef2db4c499baafe195db30a6cd1
Autor:
Gaetano Terrone, Marianna Alagia, Rita Genesio, Antonietta Coppola, Elena Gennaro, Federico Zara, Nicola Brunetti-Pierri, Pasquale Striano, Pia Bernardo, Salvatore Striano
Publikováno v:
Neurological Sciences. 42:2115-2117
no abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb1eaffe991ea425524d128996281f2
https://doi.org/10.1007/s10072-020-04898-1
https://doi.org/10.1007/s10072-020-04898-1
Publikováno v:
Molecular genetics and metabolism. 130(4)
Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. FGE deficiency results in widespread tissue a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8500537bf5a9a81d4498877ebdc4bfd6
https://pubmed.ncbi.nlm.nih.gov/33144036
https://pubmed.ncbi.nlm.nih.gov/33144036
Autor:
Raffaella Brunetti-Pierri, Vincenzo Nigro, Annalaura Torella, Guido Oppido, Nicola Brunetti-Pierri, Marianna Alagia, Gerarda Cappuccio, Giuseppe Limongelli, Francesca Simonelli, Michele Pinelli, Tudp
Publikováno v:
American Journal of Medical Genetics. Part a
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbf774781b009607e2f6edbedcf5934
http://europepmc.org/articles/PMC5814867
http://europepmc.org/articles/PMC5814867