Zobrazeno 1 - 10 of 50 pro vyhledávání: '"Guillermo, Drelichman"'
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Akademický článek
Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy
Autor: Jimena Lopez Dacal, Silvina Prada, Lourdes Correa Brito, Maria Gabriela Ropelato, Maria Gabriela Ballerini, Maria Eugenia Rodriguez, Marcela E. Gutiérrez, Marcela Soria, Lorena Morán, Cristina Ferraro, Patricia Bedecarrás, Guillermo Drelichman, Luis Aversa, Ignacio Bergadá, Rodolfo A. Rey, Romina P. Grinspon
Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHematopoietic malignancies are the most frequent type of cancer in childhood. Recent advances in cancer treatment have significantly improved survival until adulthood. There is an extensive literature on the effects of cancer treatment on
Externí odkaz: https://doaj.org/article/90fd11805aba42bdbb3919b3b1f997db
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2
Akademický článek
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
Autor: María Soledad Caldirola, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A. de Jesus, Raphaela Goldbach-Mansky, María Isabel Gaillard, Liliana Bezrodnik
Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)
During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in
Externí odkaz: https://doaj.org/article/1e09ec066fed437aa375975f59a10023
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3
Foco neurológico en paciente pediátrico con leucemia linfoblástica aguda
Autor: Ana Paula Eleno Beierbach, Manlio Rodriguez, Maria Fernanda Cuello, Ruiz Claudia, Maria Emilia Franchi, Lorena Morán, Marcela Soria, Cristina Ferraro, Federico Novas, Silvina Prada, Nora Basack, Graciela SCHWALB, Guillermo Drelichman
Publikováno v: Revista Hematología. 26:74-80
Se describe el caso de un paciente pediátrico con leucemia linfoblástica aguda T (LLA-T) que durante su tratamiento presenta síntomas neurológicos como efecto adverso asociado a la quimioterapia.Se discuten los posibles diagnósticos diferenciale
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::914ac2a05a42a5389eb929a38be2f33d
https://doi.org/10.48057/hematologa.v26i2.462
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4
Akademický článek
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency
Autor: Emilia M. Gatto, Gustavo Da Prat, Jose Luis Etcheverry, Guillermo Drelichman, Martin Cesarini
Publikováno v: Brain Sciences, Vol 9, Iss 2, p 30 (2019)
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped
Externí odkaz: https://doaj.org/article/4ce54d691495473087448c2a61324765
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5
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 skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Autor: D. Zhao, Jiapeng Ruan, Gabriel Aguilar, Guillermo Drelichman, N. Fernandez Escobar, Andrea Schenone, Nora Basack, Barbara C. Soberon, J. Knight, Pramod K. Mistry, Maria Silvia Larroude, J. Frabasil
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100820-(2021)
Molecular Genetics and Metabolism Reports
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTE
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd8e84eba81215aff5096afe093e12ae
http://www.sciencedirect.com/science/article/pii/S2214426921001154
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7
Algunos desafíos en mucopolisacaridosis tipo I
Autor: Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola
Publikováno v: Archivos Argentinos de Pediatria. 119
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27199487412c5fa7d22223a634696872
https://doi.org/10.5546/aap.2021.e193
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8
Feohifomicosis por Exserohilum rostratum en un paciente pediátrico con leucemia linfoblástica aguda postransplante de médula ósea
Autor: M. Vazquez, Paula Pena Amaya, Barbara C. Soberon, Analía Christmann, Antonio Flores, Guillermo Drelichman, Nicolas Fernandez Escobar, Debora Detoni, Susana Córdoba
Publikováno v: Revista argentina de microbiología, Volume: 52, Issue: 3, Pages: 100-91, Published: SEP 2020
Resumen El género Exserohilum corresponde a hongos dematiáceos, la mayoría fitopatógenos, saprobios, de los cuales solo tres especies serían patógenas para el hombre: Exserohilum rostratum, Exserohilum longirostratum y Exserohilum mcginnisii. S
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4db9d48485fc2c4aa21b2b9ed0de0f4
https://doi.org/10.1016/j.ram.2019.11.002
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9
New recommendations for the care of patients with mucopolysaccharidosis type I
Autor: Hernán Eiroa, Hugo Botto, Alberto Maffey, Carmen De Cunto, Raquel Staciuk, Mariana Cazalas, Graciela Espada, Claudia Arberas, Adriana Copiz, Andrea Schenone, Rodrigo Remondino, Rorberto Guelber, Graciela Zuccaro, Norma Spécola, Alejandro Fainboim, Virginia Fano, Claudio A S Parisi, Marcela Pereyra, Alejandra Antacle, Guillermo Drelichman, Hernan Amartino, Adriana Berretta, Luisa Bay
Publikováno v: Archivos Argentinos de Pediatria. 119
Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f00fce87e6c35ad4a0f761a7b43b27
https://doi.org/10.5546/aap.2021.eng.e121
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10
Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study
Autor: Juan Pablo Zarate, Fernando Manzur, Rodolfo D. Cançado, Nora Watman, Fabiola Traina, Guillermo Drelichman, Clarisse Lopes de Castro Lobo, Luis Marfil, Miriam Park, Zulay Chona
Objectives: A multicenter, noninterventional, observational study was conducted in the Latin American countries including Argentina, Brazil, Colombia, Mexico, and Venezuela to assess the prevalence of liver and cardiac iron overload using magnetic re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305e2c83b106ad6d8064834263c4789b
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