Search Results - "Neumann, Pablo"

Treatment of fabry disease: current and emerging strategies by Rozenfeld, Paula, Neumann, Pablo M

“…Fabry disease is an X-linked lysosomal storage disorder (LSD) due to deficiency of the enzyme α-galactosidase A (GLA). Absent or reduced enzyme activity leads…”
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Misdiagnosis in Fabry Disease by Marchesoni, Cintia L., MD, Roa, Norma, Pardal, Ana María, MD, Neumann, Pablo, MD, Cáceres, Guillermo, MD, Martínez, Pablo, Bioch, Kisinovsky, Isaac, MD, Bianchi, Silvia, MD, Tarabuso, Ana Lía, MD, Reisin, Ricardo C., MD

“…Objective To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis…”
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Pathogenic pathways of renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis by Bondar, Constanza, de Bolla, Maria de los Angeles, Neumann, Pablo, Pisani, Antonio, Feriozzi, Sandro, Rozenfeld, Paula Adriana

“…Background Fabry nephropathy is a consequence of the deposition of globotriaosylceramide, caused by deficient GLA enzyme activity in all types of kidney cells…”
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Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease by Ferrari, Gustavo, Kisinovsky, Isaac, Reisin, Ricardo, Rozenfeld, Paula, Neumann, Pablo, Finn, Verónica, Marchesoni, Cintia, Quieto, Pedro

“…Fabry disease (FD) is an X-linked lysosomal storage disorder affecting glycosphingolipid metabolism. Most FD patients have cardiac involvement, mainly…”
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Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages by Martin, Choua, Pablo, Neumann, Pedro, Quieto, Paula, Rozenfeld

“…We report three patients diagnosed with Fabry disease through a screening study which included individuals suffering from chronic kidney disease (CKD) at any…”
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Cardiovascular mortality and potential predictors in patients with Fabry disease treated with agalsidase alfa by Finn, Veronica M., Ferrari, Gustavo Maria, Reisin, Ricardo, Neumann, Pablo, Rozenfeld, Paula, Quieto, Pedro, Choua, Martín, Martinez, Pablo, Kisinovsky, Isaac, Caceres, Guillermo

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Major cardiovascular adverse events in Fabry disease patients receiving agalsidase alfa by Ferrari, Gustavo, Reisin, Ricardo, Kisinovsky, Isaac, Neumann, Pablo, Dragonetti, Laura, Cáceres, Guillermo, Choua, Martin, Rozenfeld, Paula, Marchesoni, Cintia, Finn, Verónica

“…Cardiovascular mortality (CVM) has become the major contributor to overall Fabry disease (FD) mortality in the enzyme replacement therapy (ERT) era. Our…”
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Looking for predictors of mortality in patients with Fabry disease on enzyme replacement therapy by Reisin, Ricardo, Ferrari, Gustavo, Kisinovsky, Isaac, Neumann, Pablo, Caceres, Guillermo, Azcurra, Zulema, Gastaldi, Anibal, Palombo, Marina, Choua, Martin, Forrester, Mariano, Cedrolla, Martin, Antongiovanni, Norberto, Fernandez, Segundo, Dupuy, S., Amartino, Hernan M.

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Guidelines for diagnosis, monitoring and treatment of Fabry disease by Neumann, Pablo, Antongiovanni, Norberto, Fainboim, Alejandro, Kisinovsky, Isaac, Amartino, Hernán, Cabrera, Gustavo, Carmona, Sergio, Ceci, Romina, Cicerán, Alberto, Choua, Martín, Doxastakis, Griselda, De Maio, Sonia, Ebner, Roberto, Escobar, Ana María, Ferrari, Gustavo, Forrester, Mariano, Guelbert, Norberto, Luna, Paula, Marchesoni, Cinthia, Masllorens, Francisca, Politei, Juan, Reisin, Ricardo, Ripeau, Diego, Rozenfeld, Paula, Serebrinsky, Graciela, Tarabuso, Ana Lía, Trípoli, Juan

“…Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and…”
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