Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Annamaria Sapuppo"'
Autor:
Emanuele Bracciamà, Annamaria Sapuppo, Laura Rapisarda, Enrico Siciliano, Anna Caciotti, Amelia Morrone, Martino Ruggieri, Giuseppina Cantarella, Renato Bernardini, Gaetano Bertino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 6, Pp 6112-6120 (2024)
Wilson’s disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be
Externí odkaz:
https://doaj.org/article/a946173ea7574513afec5fca12a37356
Autor:
Agata Fiumara, Annamaria Sapuppo, Serena Gasperini, Viola Crescitelli, Michele Sacchini, Elena Procopio, Vincenza Gragnaniello, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101126- (2024)
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the GAA gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglos
Externí odkaz:
https://doaj.org/article/4fd1c9f16efb4679995f2eedb5b44f11
Autor:
Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi, Federico Pieruzzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized in Europe at a stan
Externí odkaz:
https://doaj.org/article/c127f7d8ac8b440fad79006e7c98871d
Autor:
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci, Daniela Diomede, Gaetano Giuffrida, Laura Fiori, Chiara Montanari, Annamaria Sapuppo, Anna Rita Scortechini, Nicola Vitturi, Giovanni Duro, Carmela Zizzo
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 5, p 1487 (2024)
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is
Externí odkaz:
https://doaj.org/article/c59be1fbbdad4426af32d7d87099fe72
Autor:
Maria Grazia Pappalardo, Alessandra Di Nora, Andrea Giugno, Concetta Meli, Annamaria Sapuppo, Piero Pavone, Agata Fiumara
Publikováno v:
Global Medical Genetics, Vol 09, Iss 03, Pp 247-251 (2022)
We reported the case of acute encephalopathy related to colonic acid treatment interruption in a 12-year-old female child presenting to our unit with episodes of vomiting, headache, irritability, acute confusional state, seizures, and left lower limb
Externí odkaz:
https://doaj.org/article/0cb1a77d743f43a5bd8bd030c22641b1
Autor:
Agata Fiumara, Giuseppina Lanzafame, Annamaria Sapuppo, Alessia Arena, Lara Cirnigliaro, Rita Barone
Publikováno v:
Healthcare, Vol 11, Iss 8, p 1176 (2023)
Objective: Patients with Lysosomal disorders (LSDs) are treated with regular infusions of enzyme replacement therapy (ERT). During the COVID-19 pandemic, home treatment was permitted. This study aimed at monitoring the patients’ compliance with hom
Externí odkaz:
https://doaj.org/article/1fd8921d1687435ab2f904ab4bb1d405
Autor:
Giulia Messina, Sarah Sciuto, Alessandra Fontana, Filippo Greco, Claudia F. Oliva, Maria Grazia Pappalardo, Annamaria Sapuppo, Pierluigi Smilari, Piero Pavone, Rosario Foti
Publikováno v:
Journal of Integrative Neuroscience, Vol 20, Iss 2, Pp 509-513 (2021)
A short review on the clinical presentation of pediatrics cases of Bickerstaff brain encephalitis emphasizing the broad clinical spectrum of the disease. Cases of pediatric Bickerstaff’s brainstem encephalitis collected on three electronic medical
Externí odkaz:
https://doaj.org/article/beff9324989142d2ba0c02f81de8b14c
Autor:
Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino, Agata Fiumara
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and c
Externí odkaz:
https://doaj.org/article/f9f73e93e88b48fbbe728a6b7d150933
Autor:
Agata Fiumara, Giuseppina Lanzafame, Alessia Arena, Annamaria Sapuppo, Federica Raudino, Andrea Praticò, Piero Pavone, Rita Barone
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 9, p 2716 (2020)
Background: Lysosomal storage disorders (LSDs) are rare, chronic, progressive multisystem diseases implying severe medical issues and psychological burden. Some of these disorders are susceptible to a treatment, which is administered weekly or every
Externí odkaz:
https://doaj.org/article/65cb9138c9074998b519ef8b33dc04d1
Autor:
Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone
Publikováno v:
Brain Sciences, Vol 10, Iss 7, p 451 (2020)
The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical faci
Externí odkaz:
https://doaj.org/article/f6e5fee5f9524e28be3e2268d70d65e2