Results 71 to 80 of about 184 (115)

Burosumab per al tractament de la hipofosfatèmia congènita

Burosumab; Hipofosfatèmia lligada al cromosoma X; Raquitisme hipofosfatèmic; Malaltia minoritàriaBurosumab; Hipofosfatemia ligada al cromosoma X; Raquitismo hipofosfatèmic; Enfermedad minoritariaBurosumab; X-linked hypophosphatemia; Hypophosphatemic ...
Programa d'Harmonització Farmacoterapèutica
core  

[Coffin-Lowry syndrome: Case report in Mexico]. [PDF]

Rev Med Inst Mex Seguro Soc
Pérez-Peña AK, Juárez-Melchor D, Hernández-Castañeda Y.   +2 more
europepmc   +1 more source

Displasia ectodérmica hipohidrótica: un caso clínico

, 2019
Ectodermal dysplasia is a rare inherited disorder distinguished by the not normal development of certain structures of ectodermal origin. The hypohydrotic ectodermal dysplasia has an autosomal recessive or X-linked inheritance, the latter being the most ...
Caciva, Ricardo, Mercado, Silvia
core  

[Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene]. [PDF]

Rev Neurol
María Dolores-Sánchez C, Doval-Calvo D, Ballesta-Martínez MJ, Sánchez-Soler MJ.   +3 more
europepmc   +1 more source

[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]

Rev Med Inst Mex Seguro Soc
González-Morales IJ, Olivera-Bernal GC, León-González C DA, Rosas-Vargas H.   +3 more
europepmc   +1 more source

Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [PDF]

Biomedica
Berriozábal-Villarruel X, Godínez-Zamora GF, Baeza-Capetillo P, Pérez-Blanco U, Espinosa-Padilla SE, Aguirre-Hernández J, Blancas-Galicia L, Saucedo-Ramírez OJ.   +7 more
europepmc   +1 more source

[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency]. [PDF]

An Pediatr (Barc), 2012
Delgado Pecellín I, Castillo Reguera Y, Delgado Pecellín C, Bueno Delgado MA, González Valencia JP, Obando Santaella I, Neth O.   +6 more
europepmc   +1 more source

Second part. [PDF]

Biomedica
Zea-Vera AF, Fernandes-Pineda M.
europepmc   +1 more source

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia. [PDF]

Colomb Med (Cali), 2019
Martínez-Jaramillo C, Gutierrez-Hincapie S, Gutierrez-Hincapie S, Arango JCO, Vásquez-Duque GM, Erazo-Garnica RM, Franco JL, Trujillo-Vargas CM.   +7 more
europepmc   +1 more source

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. [PDF]

Colomb Med (Cali), 2018
Velasco Parra HM, Maradei Anaya SJ, Acosta Guio JC, Arteaga Diaz CE, Prieto Rivera JC.   +4 more
europepmc   +1 more source