Search Results - "Parra, Harvy Mauricio Velasco"

Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 by Huertas-Quintero, Jancy Andrea, Losada-Trujillo, Natalia, Cuellar-Ortiz, Diego Alberto, Velasco-Parra, Harvy Mauricio

“…Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of…”
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Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease by Velasco Parra, Harvy Mauricio, Maradei Anaya, Silvia Juliana, Acosta Guio, Johanna Carolina, Arteaga Diaz, Clara Eugenia, Prieto Rivera, Juan Carlos

“…Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic…”
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ENFERMEDADES RARAS EN LATINOAMÉRICA: REALIDADES Y DESAFÍOS by Repetto, Gabriela, Lopes-Cendes, Iscia, Ascurra, Marta, Encina, Gonzalo, Parra, Harvy Mauricio Velasco

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Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease by Velasco Parra, Harvy Mauricio, Maradei Anaya, Silvia Juliana, Acosta Guio, Johanna Carolina, Arteaga Diaz, Clara Eugenia, Prieto Rivera, Juan Carlos

“…Case Presentation: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy…”
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Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family by Martin, Angela M, Maradei, Silvia J, Velasco, Harvy M

“…Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported…”
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Heterogeneidad clínica y mutacional en pacientes colombianos con Pelizaeus Merzbacher by Velasco Parra, Harvy Mauricio, Maradei Anaya, Silvia Juliana, Acosta Guio, Johanna Carolina, Arteaga Diaz, Clara Eugenia, Prieto Rivera, Juan Carlos

“…Descripción del caso: La enfermedad de Pelizaeus Merzbacher es una leucodistrofia ligada al X que causa encefalopatía espástica crónica en la infancia. Su…”
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Heterogeneidad clínica y mutacional en pacientes colombianos con Pelizaeus Merzbacher by Velasco-Parra, Harvy Mauricio, Maradei-Anaya, Silvia Juliana, Acosta-Guio, Johanna Carolina, Arteaga-Diaz, Clara Eugenia, Prieto-Rivera, Juan Carlos

“…La enfermedad de Pelizaeus Merzbacher (PMD) es una leucodistrofia ligada al X que causa encefalopatía espástica crónica en la infancia. Su etiología es…”
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Report of a Novel Mutation in the SLC26A2 Gene Found in a Colombian Adult Patient with Diastrophic Dysplasia by Pineda, Tatiana, Rossi, Antonio, Bonafe, Luisa, Superti-Furga, Andrea, Harvy Mauricio Velasco Parra

“…Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate…”
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Detección de rearreglos subteloméricos por MLPA en pacientes pediátricos con epilepsia refractaria en Colombia: papel del gen CHL1 en la farmacorresistencia by Maradei Anaya, Silvia Juliana, Espinosa García, Eugenia, Izquierdo Bello, Álvaro, Velasco Parra, Harvy Mauricio

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Polimorfismo C3435T del Gen ABCB1 (MDR1) en pacientes con Epilepsia refractaria en tres centros de referencia Nacional en Colombia by Harvy Mauricio Velasco Parra, Luisa Fernanda Rodríguez, Claudia González, Vladimir Zambrano, Eugenia Espinosa, Álvaro Izquierdo

“…RESUMEN Introducción : La epilepsia es una condición cerebral crónica que afecta a un importante número de personas. Cerca de un tercio de los pacientes no…”
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