Search Results - "Oller Ramírez, Ana M"

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant by Kohan, Romina, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Cismondi, Adriana I, Milà, Montserrat, Oller Ramírez, Ana M, Halac, Inés Noher

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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile by Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher

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Juvenile form of Sandhoff disease: first case reported in Argentina by Mugnaini, Julia, Pereyra, Marcela, Dodelson de Kremer, Raquel, Gamboni, Beatriz, Argaraña, Carlos E, Oller Ramírez, Ana M

“…Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile,…”
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Fibrosis quística: diagnóstico molecular en 93 pacientes argentinos y detección familiar de portadores. Impacto asistencial y proyección a nuevos avances terapéuticos by Oller de Ramírez, Ana M, Ghio, Addy, Melano de Botelli, Myrna, Dodelson de Kremer, Raquel

“…Introducción. La fibrosis quística es una enfermedad autosómica recesiva causada por más de 1.500 mutaciones y variantes en el gen regulador de la conductancia…”
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Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo by Pesaola, Favio, Kohan, Romina, Cismondi, Inés Adriana, Guelbert, Norberto, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Inés

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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant by Cismondi, I Adriana, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Kohan, Romina, Oller Ramírez, Ana M, Halac, Inés Noher

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Variante juvenil de la enfermedad de Sandhoff: presentación del primer caso descrito en Argentina by Mugnaini, Julia, Pereyra, Marcela, Dodelson de Kremer, Raquel, Gamboni, Beatriz, Argaraña, Carlos E, Oller Ramírez, Ana M

“…La enfermedad de Sandhoff es una patología neurodegenerativa, de almacenamiento lisosomal, causada por mutaciones en el gen HEXB. Existen tres formas clínicas:…”
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Molecular diagnosis of cystic fibrosis in 93 Argentinean patients and detection of heterozygotes in affected families. Impact on health services and therapeutic advances by Oller de Ramírez, Ana M, Ghio, Addy, Melano de Botelli, Myrna, Dodelson de Kremer, Raquel

“…The cystic fibrosis is an autosomal recessive disease caused by more than 1500 mutations and variants in the cystic fibrosis transmembrane conductance…”
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Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype by Pesaola, F, Kohan, R, Cismondi, I A, Guelbert, N, Pons, P, Oller-Ramirez, A M, Noher de Halac, I

“…CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most…”
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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

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