Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Annarita Pittalà"'
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 107-115 (2018)
Abstract Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuronopathic MPS such as MPS IH, MPS
Externí odkaz:
https://doaj.org/article/cefff057aaf1445586fc6dd905dbba80
Autor:
Giovanni V. Coppa, Orazio Gabrielli, Daniela Concolino, Annarita Pittalà, Veronica Mantovani, Chiara Monachesi, Francesca Maccari, Lucia Padella, Elisa Pascale, Fabio Galeotti, Laura Rigon, Agata Fiumara, Rita Lucia Marchesiello, Tiziana Galeazzi, Lucia Zampini, Nicola Volpi
Dried blood spot (DBS) technology is a cheap and easy method largely applied in newborn screening. Mucopolysaccharidoses (MPS) are characterized by the deficit of enzymes that degrade glycosaminoglycans (GAGs) characterized by progressive worsening o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54da4454329ca4309497d550d3eaa80a
https://hdl.handle.net/11380/1164782
https://hdl.handle.net/11380/1164782
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 107-115 (2018)
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 107-115 (2018)
Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuronopathic MPS such as MPS IH, MPS II, MPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfd6d9da1ee2f12c82bbff2dc642485
http://hdl.handle.net/20.500.11769/358064
http://hdl.handle.net/20.500.11769/358064
Autor:
Riccardo Iacobacci, Annarita Pittalà, Rita Barone, MariaAnna Messina, Giovanni Sorge, Alessia Arena, Concetta Meli, Federica Raudino, Fortunata Giuffrida, Vera Muccilli, Agata Fiumara
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 4, Iss 2, p 12 (2018)
International Journal of Neonatal Screening; Volume 4; Issue 2; Pages: 12
International Journal of Neonatal Screening, Vol 4, Iss 2, p 12 (2018)
International Journal of Neonatal Screening; Volume 4; Issue 2; Pages: 12
The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::005d37ac5d6722a838f2e3c0174a1bcc
https://doi.org/10.3390/ijns4020012
https://doi.org/10.3390/ijns4020012
Autor:
Milena La Spina, Annarita Pittalà, Piero Farruggia, Cinzia Castana, Manuela Tumino, Luca Lo Nigro, Maura Faraci, Marivana Alfano, Giovanna Russo, Andrea Di Cataldo, Vincenzo Di Raimondo, Concetta Meli
Publikováno v:
American journal of medical genetics. Part A. (12)
Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95dc053fca8cef8bcaaab0532d564c35
https://pubmed.ncbi.nlm.nih.gov/22012855
https://pubmed.ncbi.nlm.nih.gov/22012855
Publikováno v:
Italian Journal of Pediatrics, Vol 36, Iss 1, p 31 (2010)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be304ea93f3a29c987d4dc1096cd22a5
http://www.ijponline.net/content/36/1/31
http://www.ijponline.net/content/36/1/31
Autor:
MariaAnna Messina, Concetta Meli, Federica Raudino, Annarita Pittalá, Alessia Arena, Rita Barone, Fortunata Giuffrida, Riccardo Iacobacci, Vera Muccilli, Giovanni Sorge, Agata Fiumara
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 2, p 12 (2018)
The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newb
Externí odkaz:
https://doaj.org/article/7c2fc152f845482496d2e0faa51d68b4