Prevalence of Fabry disease in male dialysis patients: Argentinean screening study von Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.

Volltext

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe ske... von Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.

Volltext

Small Fiber Neuropathy in Fabry Disease: a Review of Pathophysiology and Treatment von Politei, Juan M., Durand, Consuelo, Schenone, Andrea B.

Volltext

Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy von Politei, Juan, Schenone, Andrea B, Guelbert, Norberto, Fainboim, Alejandro, Szlago, Marina

Volltext

Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis von Abdenur, Jose E., Abeling, Nico, Specola, Norma, Jorge, Lia, Schenone, Andrea B., van Cruchten, Arno C., Chamoles, Nestor A.

Volltext

Fabry disease: the importance of the enzyme replacement therapy (TRE), treating quickly and efficiently von Juan Manuel Politei, Andrea B. Schenone, Norberto Antongiovanni, Ana María Cusumano, Gustavo Cabrera, Marina Szlago

Volltext

Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático von Politei, Juan, . Schenone, Andrea B, Guelbert, Norberto, Fainboim, Alejandro, Szlago, Marina

Volltext

TERAPIA DE REEMPLAZO ENZIMÁTICO EN LA ENFERMEDAD DE FABRY: LA DOSIS ES IMPORTANTE von Politei, Juan Manuel, Schenone, Andrea B, Durand, Consuelo, Ortiz, Alberto

Volltext

Chronic intestinal pseudo-obstruction: consider Fabry disease? von Politei, Juan, Durand, Consuelo, Schenone, Andrea B, Thurberg, Beth

Volltext

Mucopolysaccharidosis type VII: Clinical and biochemical data of 8 patients from Argentina von Durand, Consuelo, Frabasil, Joaquín, Politei, Juan, Atanacio, Nora, Fortini, Sebastian, Flores, Romina, Mateos, Georgina, Chirino, Andrea, Schenone, Andrea B.

Volltext

Screening of Fabry disease in male hemodialysis patients: Prevalence and mutations found in Argentina von Frabasil, Joaquin, Sokn, Silvia, Durand, Consuelo, Politei, Juan Manuel, Schenone, Andrea B.

Volltext

Mucopolysaccharidosis type VII: Selective retrospective screening detects 4 new cases von Frabasil, Joaquin, Durand, Consuelo, Sokn, Silvia, Carabajal, Ricardo, Carozza, Patricia, Gaggioli, Daniela, Politei, Juan, Schenone, Andrea B.

Volltext

Dose-dependent response in Fabry treatment: decrement in plasma lyso-Gl3 after switching from alfa to beta von Politei, Juan, Frabasil, Joaquin, Velasquez, Dana, Durand, Consuelo, Schenone, Andrea B

Volltext

Is joint pain a criteria for ERT indication in adult patients with MPS IVA and VI, even without significant visceral involvement? von Politei, Juan, Durand, Consuelo, Frabasil, Joaquin, Masllorens, Francisca, Schenone, Andrea B

Volltext

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders von Molero‐Luis, Marta, Serrano, Mercedes, Ormazábal, Aida, Pérez‐Dueñas, Belén, García‐Cazorla, Àngels, Pons, Roser, Artuch, Rafael, Amartino, Hernan, Arrabal, Luisa, Campistol, Jaume, Casado, Mercedes, Castro, Pedro Castro, Cormand, Bru, Dinopoulos, Argirios, Domingo, Rosario, Duarte, Sofia T, Fernández‐Álvarez, Emilio, Desviat, Lourdes R, Hegde, Anaita, López‐Laso, Eduardo, Montero, Raquel, Ortez, Carlos, Pérez, Belén, Pineda, Mercé, Sierra, Cristina, Szlago, Marina, Schenone, Andrea B., Ruiz, Ángeles, Sequeira, Sílvia, Tondo, Mireia, Yapici, Zuhal, Iniesta, Raquel

Volltext

Enzyme replacement therapy in Fabry Disease: the importance of dose von Juan Manuel Politei, Andrea B. Schenone, Consuelo Durand, Alberto Ortiz

Volltext

121. Assessment and biochemical diagnosis of MPS IV in Argentina von Schenone, Andrea B., Szlago, Marina, Gagioli, Daniela, Blanco, Mariana

Volltext

138. GM2 gangliosidosis type B1: Case report von Szlago, Marina, Schenone, Andrea B., Gagioli, Daniela, Blanco, Mariana, Benavente, Rodolfo

Volltext

Enfermedad de Fabry: la importancia de la terapia de reemplazo enzimático (TRE): tratar rápida y eficazmente von Politei, Juan, Schenone, Andrea B., Antongiovanni, Norberto, Cusumano, Ana, Cabrera, Gustavo, Szlago, Marina

Volltext

Multiple acyl-coa-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment von ABDENUR, José E, CHAMOLES, Néstor A, SCHENONE, Andrea B, JORGE, L. I. A, GUINLE, Adolfo, BERNARD, Cristina, LEVANDOVSKIY, Valeriy, FUSTA, Marta, LAVORGNA, Silvana

Volltext