Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Paola Luzi"'
Publikováno v:
BioImpacts, Vol 11, Iss 2, Pp 135-146 (2021)
Introduction: Krabbe disease (KD) is an autosomal recessive disorder caused by mutations in the galactocerebrosidase (GALC) gene resulting in neuro-inflammation and defective myelination in the central and peripheral nervous systems. Most infantile p
Externí odkaz:
https://doaj.org/article/589c75d13fc64bafa5594c056ab69b36
Autor:
David A. Wenger, Paola Luzi
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 61-67 (2020)
Summary Lysosomal disorders are diseases that involve mutations in genes responsible for the coding of lysosomal enzymes, transport proteins, activator proteins and protein processing enzymes. These defects lead to the storage of specific metabolites
Externí odkaz:
https://doaj.org/article/f0d399f83438449fab47605d43734b1a
Publikováno v:
BioImpacts, Vol 10, Iss 2, Pp 105-115 (2020)
Introduction: Krabbe disease (KD) is an autosomal recessive lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. This results in defective myelination in the peripheral and central nervous systems due to low GALC activity.
Externí odkaz:
https://doaj.org/article/aae001f99ab445c9b163aecbc8a27e4b
Autor:
Flavia L. Lombardo, Emanuela Salvi, Eleonora Lacorte, Paola Piscopo, Flavia Mayer, Antonio Ancidoni, Giulia Remoli, Guido Bellomo, Gilda Losito, Fortunato D’Ancona, Marco Canevelli, Graziano Onder, Nicola Vanacore, The Italian National Institute of Health Nursing Home Study Group, Ilaria Bacigalupo, Luigi Bertinato, Patrizia Carbonari, Maria Grazia Carella, Annamaria Confaloni, Alessio Crestini, Carla Faralli, Simone Fiaccavento, Silvia Francisci, Cinzia Lo Noce, Paola Luzi, Tania Lopez, Maria Masocco, Monica Mazzola, Ilaria Palazzesi, Luana Penna, Daniela Pierannunzio, Maria Cristina Porrello, Giulia Scaravelli, Andrea Siddu, Sabrina Sipone, Lucia Speziale, Andrea Tavilla, Mauro Palma, Gianluca Pucciarelli, Daniela Accorgi, Catia Bedosti, Gabriella Carraro, Maria Mongardi, Gianluca Ferrari
Publikováno v:
Frontiers in Psychiatry, Vol 11 (2020)
Older people living in nursing homes (NHs) are particularly vulnerable in the ongoing COVID-19 pandemic, due to the high prevalence of chronic diseases and disabilities (e.g., dementia). The phenomenon of adverse events (AEs), intended as any harm or
Externí odkaz:
https://doaj.org/article/0f618f36cec144a5b5d619f89cb3e7d0
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 57 (2021)
Krabbe disease is an autosomal recessive leukodystrophy caused by pathogenic variants in the galactocerebrosidase (GALC) gene. GALC activity is needed for the lysosomal hydrolysis of galactosylceramide, an important component of myelin. While most pa
Externí odkaz:
https://doaj.org/article/90566d848e914cd2bc23d269440ec191
Publikováno v:
BioImpacts, Vol 3, Iss 4, Pp 145-147 (2013)
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological ou
Externí odkaz:
https://doaj.org/article/da27e73b78d04b6187a32a9e8a222b86
Autor:
Paola Luzi, David A. Wenger
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 61-67 (2020)
JIMD Reports
JIMD Reports
Summary Lysosomal disorders are diseases that involve mutations in genes responsible for the coding of lysosomal enzymes, transport proteins, activator proteins and protein processing enzymes. These defects lead to the storage of specific metabolites
Publikováno v:
BioImpacts : BI
BioImpacts, Vol 10, Iss 2, Pp 105-115 (2020)
BioImpacts, Vol 10, Iss 2, Pp 105-115 (2020)
Introduction:Krabbe disease (KD) is an autosomal recessive lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. This results in defective myelination in the peripheral and central nervous systems due to low GALC activity. T
Autor:
Neeta L. Vora, Mona M. Makhamreh, Paola Luzi, Seth I. Berger, David A. Wenger, Huda B. Al-Kouatly, Vincenzo Berghella, Laura Felder, Stephanie Kass
Publikováno v:
Prenat Diagn
OBJECTIVES Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF i
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 57, p 57 (2021)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
Krabbe disease is an autosomal recessive leukodystrophy caused by pathogenic variants in the galactocerebrosidase (GALC) gene. GALC activity is needed for the lysosomal hydrolysis of galactosylceramide, an important component of myelin. While most pa