Zobrazeno 1 - 10
of 694
pro vyhledávání: '"Marzia Pasquali"'
Autor:
Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101142- (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes as
Externí odkaz:
https://doaj.org/article/13712aa79f9049628045d3f7e554c0c8
Autor:
Alexa Dickson, May Flowers, Marcus Miller, Elaine Spector, Gregory Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett Graham, Rong Mao
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101591- (2024)
Externí odkaz:
https://doaj.org/article/52935668b65e482f90d939a3ea323c4b
Autor:
Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 64 (2023)
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifest
Externí odkaz:
https://doaj.org/article/92368422866c4c7e913149ed58a1492a
Autor:
Aishwarya Siddharth, Christina Grassie, Emma Michl, Roy Peake, Olaf Bodamer, Richard Steet, Marzia Pasquali, Laura Pollard
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100002- (2023)
Externí odkaz:
https://doaj.org/article/058d83dfe6024efa91900cd73c81def9
Autor:
Christina Grassie, Aishwarya Siddharth, Emma Michl, Stephanie Sacharow, Amy Kritzer, Olaf Bodamer, Roy Peake, Patricia Hall, Dietrich Matern, Suzette Huguenin, Marzia Pasquali, Laura Pollard
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100011- (2023)
Externí odkaz:
https://doaj.org/article/a55ab33535b647b199fdf6a6a1f06970
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100021- (2023)
Externí odkaz:
https://doaj.org/article/967471a144904889bc17cda1be0063ae
Autor:
Silverio Rotondi, Lida Tartaglione, Natalia De Martini, Domenico Bagordo, Sara Caissutti, Marzia Pasquali, Maria Luisa Muci, Sandro Mazzaferro
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Intradialytic hypotension (IDH) is a hemodynamic phenomenon recently associated with decreased blood oxygen saturation (SO2). The ratio between peripheral oxygen saturation (SpO2) and central venous SO2 (ScvO2) or Oxygen Extraction Ratio (OE
Externí odkaz:
https://doaj.org/article/fb293d7f40284092ac7e2af6f5e4f7c7
Autor:
Silvia Lai, Maria Ida Amabile, Sandro Mazzaferro, Anna Paola Mitterhofer, Angelo Mazzarella, Alessandro Galani, Giovanni Imbimbo, Rosario Cianci, Marzia Pasquali, Alessio Molfino, Study Group on Geriatric Nephrology of the Italian Society of Nephrology (SIN)
Publikováno v:
Cancer Medicine, Vol 9, Iss 11, Pp 3752-3757 (2020)
Abstract Background Sunitinib is a standard treatment for metastatic renal cell carcinoma (RCC). Currently, the data available on the effects of sunitinib on endothelial dysfunction, metabolic changes, and cardiovascular (CV) risk factors are limited
Externí odkaz:
https://doaj.org/article/8486634a48b6442294efd210eb65b4d1
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100791- (2021)
The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73)
Externí odkaz:
https://doaj.org/article/2d34d9838eb84141b59ac06e717fe74c
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100475- (2020)
Externí odkaz:
https://doaj.org/article/88527a361d8e470d96400938976b48e9