Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Alessandro P. 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:
Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction since birth has led to normal cogni
Externí odkaz:
https://doaj.org/article/fbe95c55a4a245f3ade8b160e5a9f85a
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:
Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/6c394e9729d243dab93f89e386e752c4
Autor:
Alessandro P. Burlina, Chiara Cazzorla, Pamela Massa, Christian Loro, Daniela Gueraldi, Alberto B. Burlina
Publikováno v:
Nutrients, Vol 12, Iss 7, p 2078 (2020)
The gold standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet supplemented with Phe-free protein substitutes. Adherence to therapy becomes difficult after childhood. Supplementing with large neutral amino acids (LNA
Externí odkaz:
https://doaj.org/article/dd2ed32dc2e246a3a503debebc84afa5
Autor:
Alessandro P. Burlina, Chiara Cazzorla, Pamela Massa, Giulia Polo, Christian Loro, Daniela Gueraldi, Alberto B. Burlina
Publikováno v:
Nutrients, Vol 11, Iss 10, p 2541 (2019)
The standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitutes; however, adult patients often show poor adherence to therapy. Alternative treatment options include the use o
Externí odkaz:
https://doaj.org/article/691e744001ce46c3adebd1c2d448a015