Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Andrea Puma"'
Autor:
Alberto B. Burlina, Alessandro P. Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R. Baumgartner, Vincenza Gragnaniello
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 56-62 (2024)
Abstract Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl‐CoA mutase. It presents with episodes of coma,
Externí odkaz:
https://doaj.org/article/55b81661c71f47da8d6c76bd5a4b1995
Autor:
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox balance. Oxidative stress
Externí odkaz:
https://doaj.org/article/c58590f104974169867af1cbdb4fa339
Autor:
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 3 (2023)
In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is n
Externí odkaz:
https://doaj.org/article/272672c047b943eda0b1338bf965dc93
Autor:
Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B. Burlina
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 31 (2023)
Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardi
Externí odkaz:
https://doaj.org/article/64a6030d9bf449ae867c5dd619c83f0f
Autor:
Andrea Puma, Milena Brugnara, Paolo Cavarzere, Marco Zaffanello, Giorgio Piacentini, Rossella Gaudino
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Suprasellar arachnoid cysts represent a rare occurrence in the pediatric population and usually cause symptoms related to mass effect and can occasionally cause endocrine dysfunctions. The association between SAC and the syndrome of inappropriate ant
Externí odkaz:
https://doaj.org/article/00e4a77f9c8e4c2cafc0794360d254b4
Autor:
Antonio Silva Sprock, Alicia García-Holgado, Teresa Ramos-Quispe, Sonia Castro-Cuba-Sayco, Karol Andrea Puma-Yagua, Klinge Orlando Villalba-Condori
Publikováno v:
Universidad Continental
Repositorio Institucional-Continental
CONTINENTAL-Institucional
instacron:CONTINENTAL
Repositorio Institucional-Continental
CONTINENTAL-Institucional
instacron:CONTINENTAL
Creativity is a significant flaw that is observed in the Peruvian educational system, and that has its origins in initial education. The purpose of this research is to know the influence of the use of physical space in the development of creativity a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93be72ecad86f6663a53bee603e4705b
https://doi.org/10.26803/ijlter.19.2.12
https://doi.org/10.26803/ijlter.19.2.12
Autor:
Andrea Puma, Luca Pecoraro, Chiara Salvottini, Luca Dalle Carbonare, Giorgio Piacentini, Angelo Pietrobelli
Publikováno v:
Endocrine, metabolicimmune disorders drug targets.
Lifestyle modifications (i.e., nutrition and physical activity) remain the main tools in the context of childhood obesity's treatment and prevention of short and long-term consequences. At the same time, parental perception of child weight represents
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9f4f1397e46c56c6f2b56dc86cb35
https://pubmed.ncbi.nlm.nih.gov/35638538
https://pubmed.ncbi.nlm.nih.gov/35638538
Autor:
Vincenza Gragnaniello, Daniela Gueraldi, Chiara Cazzorla, Andrea Puma, Anna Commone, Pamela Massa, Christian Loro, Alessandro Burlina, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism. 138:107126
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77964a8b6a4dca472558b289ff522199
https://doi.org/10.1016/j.ymgme.2022.107126
https://doi.org/10.1016/j.ymgme.2022.107126
Autor:
Alberto Burlina, Vincenza Gragnaniello, Daniela Gueraldi, Chiara Cazzorla, Andrea Puma, Anna Commone, Pamela Massa, Christian Loro, Alessandro Burlina
Publikováno v:
Molecular Genetics and Metabolism. 138:107039
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91e094cb4687ded1123c926136e4c1b1
https://doi.org/10.1016/j.ymgme.2022.107039
https://doi.org/10.1016/j.ymgme.2022.107039
Autor:
Giorgio Piacentini, Angelo Pietrobelli, Andrea Puma, Luca Dalle Carbonare, Alice Iride Flore, Luca Pecoraro
Publikováno v:
Medico e Bambino pagine elettroniche. 24:285-286
A 4-year-old boy presented with a sudden swelling in his right eye associated with itch, unilateral tearing and presence of jelly-like oedema in the bulbar conjunctiva. The diagnosis was conjunctival chemosis. Conjunctival chemosis is the oedematous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::298373655515e34c4f27b095253c88ba
https://doi.org/10.53126/mebxxiv285
https://doi.org/10.53126/mebxxiv285