Zobrazeno 1 - 10
of 57
pro vyhledávání: '"A. B. Burlina"'
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:
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepa
Externí odkaz:
https://doaj.org/article/9de6a35a1c3e47259c17ab8c1cb6dde5
Autor:
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different cou
Externí odkaz:
https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6
Autor:
Vincenza Gragnaniello, Alessandro P. Burlina, Renzo Manara, Chiara Cazzorla, Laura Rubert, Daniela Gueraldi, Ermanno Toniolli, Emilio Quaia, Alberto B. Burlina
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 414-419 (2022)
Abstract Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (“Gaucher cells”), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents wi
Externí odkaz:
https://doaj.org/article/559bfebfaf6a49b09caec0f0795cb268
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, Pim W.W.M. Pijnappel, Alessandro P. Burlina, Stijn L.M. In 't Groen, Daniela Gueraldi, Chiara Cazzorla, Evelina Maines, Giulia Polo, Leonardo Salviati, Giovanni Di Salvo, Alberto B. Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100929- (2022)
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://doaj.org/article/7db341a8b0d04471852e409a9183746c
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:
Vincenza Gragnaniello, Silvia Carraro, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Pamela Massa, Stefania Zanconato, Alberto B. Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100878- (2022)
Mucopolysaccharidosis type II (MPS II) is a multisystemic lysosomal storage disorder caused by deficiency of the iduronate 2-sulfatase enzyme. Currently, enzyme replacement therapy (ERT) with recombinant idursulfase is the main treatment available to
Externí odkaz:
https://doaj.org/article/2de6df5a8c154ab3b258ec1e79885e6c
Autor:
Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia
Publikováno v:
Haematologica, Vol 107, Iss 3 (2021)
Externí odkaz:
https://doaj.org/article/35cd2665a3f64ab1a47cd248150afba4
Autor:
Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina
Publikováno v:
Biomolecules, Vol 11, Iss 7, p 951 (2021)
Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for F
Externí odkaz:
https://doaj.org/article/4e819e346de74879a1a19db4c2f75def