Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Martha Caterina Faraguna"'
Autor:
Silvia Molinari, Chiara Fossati, Maria Laura Nicolosi, Santo Di Marco, Martha Caterina Faraguna, Francesca Limido, Laura Ocello, Claudia Pellegrinelli, Martina Lattuada, Alessandra Gazzarri, Alessandra Lazzerotti, Debora Sala, Chiara Vimercati, Giulia Capitoli, Cecilia Daolio, Andrea Biondi, Adriana Balduzzi, Alessandro Cattoni
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological p
Externí odkaz:
https://doaj.org/article/65c46e37babe4fedbf0826ddb9e59c9e
Autor:
Martha Caterina Faraguna, Irene Lepri, Antonio Clavenna, Maurizio Bonati, Chiara Vimercati, Debora Sala, Alessandro Cattoni, Maria Luisa Melzi, Andrea Biondi
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-7 (2023)
Abstract Background The aim of this study is to compare the 2021–2022 bronchiolitis season to the four previous years (2017–2018, 2018–2019, 2019–2020, 2020–2021) to see if there was an anticipation of the peak, an overall increase of cases
Externí odkaz:
https://doaj.org/article/dd50bc7976ff4476ade7515ee8da63e1
Autor:
Alessandro Cattoni, Silvia Molinari, Benedetta Riva, Santo Di Marco, Marta Adavastro, Martha Caterina Faraguna, Vittoria Garella, Francesco Medici, Maria Laura Nicolosi, Claudia Pellegrinelli, Martina Lattuada, Donatella Fraschini, Fabio Pagni, Andrea Biondi, Adriana Balduzzi
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Thyroid disorders (TD) represent a remarkable share of all the late morbidities experienced following pediatric haematopoietic stem cell transplantation (HSCT), with long-term reported occurrence often exceeding 70%. In addition, the data collected o
Externí odkaz:
https://doaj.org/article/7af949a946294f048abbde0c486453d9
Autor:
Martha Caterina Faraguna, Cecilia Maria Terranova, Nicolò Peccatori, Michele Gnech, Alfredo Berrettini, Maria Luisa Melzi
Publikováno v:
Medico e Bambino. 41:435-440
Overall, the incidence of paediatric urolithiasis is increasing; 50-90% of cases are due to metabolic alterations, 3-30% are associated with urinary tract infections and the remaining cases are idio-pathic. About 20-30% of children, especially boys w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4490efeae88e4ccef87400c4921f0ce
https://doi.org/10.53126/meb41435
https://doi.org/10.53126/meb41435
Autor:
Fabiana Di Stasio, Martha Caterina Faraguna, Santo Di Marco, Viola Crescitelli, Maria Iascone, Santa Florio, Cinzia Peruzzi, Serena Gasperini
Publikováno v:
Journal of Pediatric Epilepsy. 11:061-064
Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, conge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c90ac8fa1410bc1fabae11a78602c49b
https://doi.org/10.1055/s-0041-1739488
https://doi.org/10.1055/s-0041-1739488
Autor:
Martha Caterina Faraguna, Irene Lepri, Antonio Clavenna, Maurizio Bonati, Chiara Vimercati, Debora Sala, Alessandro Cattoni, Maria Luisa Melzi, Andrea Biondi
Background The aim of this study is to compare the 2021–2022 bronchiolitis season to the four previous years (2017–2018, 2018–2019, 2019–2020, 2020–2021) to see if there was an anticipation of the peak, an overall increase of cases, and an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef90fbecbaffa2e4fa1e8d03fc82082c
https://doi.org/10.21203/rs.3.rs-2152322/v1
https://doi.org/10.21203/rs.3.rs-2152322/v1
Autor:
Martha Caterina Faraguna, Viola Crescitelli, Anna Fornari, Silvia Barzaghi, Salvatore Savasta, Thomas Foiadelli, Daniele Veraldi, Matteo Paoletti, Anna Pichiecchio, Serena Gasperini
Publikováno v:
Genes. 14:362
In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b14db9c291cb04a9ae25d45d0b3a0a34
https://doi.org/10.3390/genes14020362
https://doi.org/10.3390/genes14020362
Autor:
Martha Caterina Faraguna
Publikováno v:
Medico e Bambino Pagine elettroniche. 25:210-210
A series of 14 cases affected by pica related to iron deficient anaemia is described. The epidemiologic, clinical and therapeutic implications of pica are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::438dc434dca5ac1f6834ec2800769e9b
https://doi.org/10.53126/mebxxvd210
https://doi.org/10.53126/mebxxvd210
Publikováno v:
Medico e Bambino Pagine elettroniche. 25:153-153
The case of a 9-month-old infant presenting with urinary tract infection due to Proteus mirabilis followed by acute renal failure due to a congenital urethral stenosis with calculosis is described. The diagnostic implication of a urinary tract infect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b6a111dac205b4d2d6cf9fd42cec1cc
https://doi.org/10.53126/mebxxvs153
https://doi.org/10.53126/mebxxvs153
Autor:
Martha Caterina Faraguna, Francesca Musto, Viola Crescitelli, Maria Iascone, Luigina Spaccini, Davide Tonduti, Tiziana Fedeli, Gaia Kullmann, Francesco Canonico, Alessandro Cattoni, Fabiola Dell’Acqua, Carmelo Rizzari, Serena Gasperini
Publikováno v:
Genes. 13:442
Mucopolysaccharidosis-plus syndrome (MPS-PS) is a novel autosomal recessive disorder caused by a mutation in the VPS33A gene. This syndrome presents with typical symptoms of mucopolysaccharidosis, as well as congenital heart defects, renal, and hemat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa37b6c8aa3cc19174c98903f13de0ff
https://doi.org/10.3390/genes13030442
https://doi.org/10.3390/genes13030442