Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna Fornari"'
Autor:
Margherita Calia, Andrea Mario Luciano Arosio, Viola Crescitelli, Anna Fornari, Roberta Pretese, Serena Gasperini, Giovanna Zuin
Publikováno v:
Therapeutic Advances in Gastroenterology, Vol 16 (2023)
Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn’s-like disease
Externí odkaz:
https://doaj.org/article/6c047a5c7f4e4b3785913e2202f04a1e
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, Vol 14, Iss 2, p 362 (2023)
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://doaj.org/article/6d9deeffd3e14454a4b96ee0e9b09a58
Autor:
Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 23 (2021)
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing; one or two specime
Externí odkaz:
https://doaj.org/article/067a1ce7f8054700bd2a9e137d4cc7c0
Autor:
Christopher Nixon, Amy C Smith, Anna Fornari, Andrew P. Norgan, Sainan Wei, Lars Mørkrid, Norma P. Tavakoli, Vaneet Arora, Bobby J Miller, Joseph J. Orsini, Rolf Zetterström, Rolf D. Pettersen, Gregg Marquardt, Piero Rinaldo, Robert J. Currier, Patricia L. Hall, Michele Caggana, Amy L Piazza, Hao Tang, Stephanie D Stoway, Neil R Schubauer, Henrik Åhlman, Alexander D. Rowe, Arthur Hagar
Publikováno v:
International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 23, p 23 (2021)
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing
one or two spe
one or two spe