Where is the link between mineral bone markers and cardiovascular disease in CKD?

Por Cozzolino, Mario, Pasquali, Marzia
Publicado no Clin Kidney J (2015)

CARNITINE TRANSPORT AND FATTY ACID OXIDATION

Por Longo, Nicola, Frigeni, Marta, Pasquali, Marzia
Publicado no Biochim Biophys Acta (2016)

Glutaric Acidemia Type 1

Por Hedlund, Gary L., Longo, Nicola, Pasquali, Marzia
Publicado em 2006

DISORDERS OF CARNITINE TRANSPORT AND THE CARNITINE CYCLE

Por Longo, Nicola, di San Filippo, Cristina Amat, Pasquali, Marzia
Publicado em 2006

Carcinogenic Effects in a Phenylketonuria Mouse Model

Por Sidell, Neil, Hao, Lijuan, Pasquali, Marzia, McDonald, J. David
Publicado em 2009

Progressive loss in circulating volume during haemodialysis can be monitored by time voltage integral area of QRS complex: pilot study

Por Curione, Mario, Castro, Claudia, Cammarota, Camillo, Tonnarini, Gianfranco, Pasquali, Marzia
Publicado em 2013

The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders

Por Erlingsson, Uzochi Chimdinma Ndukwe, Iacobazzi, Francesco, Liu, Aiping, Ardon, Orly, Pasquali, Marzia, Longo, Nicola
Publicado em 2013

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

Por De Biase, Irene, Viau, Krista S., Liu, Aiping, Yuzyuk, Tatiana, Botto, Lorenzo D., Pasquali, Marzia, Longo, Nicola
Publicado no JIMD Rep (2016)

Calcitriol/calcifediol ratio: An indicator of vitamin D hydroxylation efficiency?

Por Pasquali, Marzia, Tartaglione, Lida, Rotondi, Silverio, Muci, Maria Luisa, Mandanici, Giusi, Farcomeni, Alessio, Marangella, Martino, Mazzaferro, Sandro
Publicado no BBA Clin (2015)

Genotype-Phenotype Correlation in Primary Carnitine Deficiency

Por Rose, Emily Cornforth, di San Filippo, Cristina Amat, Ndukwe Erlingsson, Uzochi C., Ardon, Orly, Pasquali, Marzia, Longo, Nicola
Publicado em 2011

Soluble α-Klotho Serum Levels in Chronic Kidney Disease

Por Rotondi, Silverio, Pasquali, Marzia, Tartaglione, Lida, Muci, Maria Luisa, Mandanici, Giusy, Leonangeli, Cristiana, Sales, Silvia, Farcomeni, Alessio, Mazzaferro, Sandro
Publicado no Int J Endocrinol (2015)

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

Por Raymond, Gerald V., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Miller, Weston P., Orchard, Paul J., Lund, Troy C.
Publicado no Sci Rep (2016)

Progression of Coronary Artery Calcification in Renal Transplantation and the Role of Secondary Hyperparathyroidism and Inflammation

Por Mazzaferro, Sandro, Pasquali, Marzia, Taggi, Franco, Baldinelli, Matteo, Conte, Carmina, Muci, Maria Luisa, Pirozzi, Nicola, Carbone, Iacopo, Francone, Marco, Pugliese, Francesco
Publicado em 2009

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case

Por Thurm, Audrey, Himelstein, Daniel, D'Souza, Precilla, Rennert, Owen, Jiang, Susanqi, Olatunji, Damilola, Longo, Nicola, Pasquali, Marzia, Swedo, Susan, Salomons, Gajja S, Carrillo, Nuria
Publicado no J Dev Behav Pediatr (2016)

Evidence of Increased Bone Resorption in Neurofibromatosis Type 1 Using Urinary Pyridinium Crosslink Analysis

Por STEVENSON, DAVID A., SCHWARZ, ELISABETH L., VISKOCHIL, DAVID H., MOYER-MILEUR, LAURIE J., MURRAY, MARY, FIRTH, SEAN D., D’ASTOUS, JACQUES L., CAREY, JOHN C., PASQUALI, MARZIA
Publicado em 2008

Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

Por Mehta, Sarju G., Khare, Manaswitha, Ramani, Rupal, Watts, Giles D. J., Simon, Mariella, Osann, Kathryn E., Donkervoort, Sandra, Dec, Eric, Nalbandian, Angele, Platt, Julia, Pasquali, Marzia, Wang, Annabel, Mozaffar, Tahseen, Smith, Charles D., Kimonis, Virginia E.
Publicado em 2012

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Por Kimonis, Virginia. E., Mehta, Sarju G., Fulchiero, Erin C., Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G., Kartashov, Alex, Forman, Mark S., Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P., Smith, Charles D., Watts, Giles D. J.
Publicado em 2008

Bone Resorption in Syndromes of the Ras/MAPK Pathway

Por Stevenson, David A., Schwarz, E.L., Carey, John C., Viskochil, David H., Hanson, Heather, Bauer, Stephanie, Weng, Hsin-Yi Cindy, Greene, Tom, Reinker, Kent, Swensen, Jeffrey, Chan, Rebecca J., Yang, Feng-Chun, Senbanjo, Linda, Yang, Zhenyun, Mao, Rong, Pasquali, Marzia
Publicado em 2011

Multiple Increased Osteoclast Functions in Individuals with Neurofibromatosis Type 1

Por Stevenson, David A., Yan, Jincheng, He, Yongzheng, Li, Huijie, Liu, Yaling, Zhang, Qi, Jing, Yongmin, Guo, Zhiping, Zhang, Wei, Yang, Dalong, Wu, Xiaohua, Hanson, Heather, Li, Xiaohong, Staser, Karl, Viskochil, David H., Carey, John C., Chen, Shi, Miller, Lucy, Roberson, Kent, Moyer-Mileur, Laurie, Yu, Menggang, Schwarz, Elisabeth L., Pasquali, Marzia, Yang, Feng-Chun
Publicado em 2011

Diagnosing mucopolysaccharidosis IVA

Por Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Publicado em 2013