La hipocalcemia severa, una emergencia endocrina de difícil manejo

Authors: Amanda Páez Talero

Source: Revista Colombiana de Endocrinología, Diabetes y Metabolismo, Vol 11, Iss 4 (2024)

Subject Terms: Hipocalcemia, deficiencia de vitamina D, Enfermedades Genéticas Congénitas, Minerales, Huesos, Hiperparatiroidismo Primario, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://revistaendocrino.org/index.php/rcedm/article/view/927; https://doaj.org/toc/2389-9786; https://doaj.org/toc/2805-5853

Access URL: https://doaj.org/article/2d85adfc02884e21bfb176c92137291f

Políticas públicas en salud en Perú: Responsabilidad social para la atención de patologías congénitas

Authors: Franz Tito Coronel-Zubiate, Carlos Alberto Farje Gallardo, Julio Mariano Chávez Milla, Edwin Gonzáles Paco

Source: Revista Venezolana de Gerencia, Vol 28, Iss 104, Pp 1439-1453 (2023)

Subject Terms: enfermedades genéticas congénitas, mortalidad infantil, política de salud, enfermedades raras, responsabilidad social, Commerce, HF1-6182, Business, HF5001-6182

File Description: electronic resource

Relation: https://produccioncientificaluz.org/index.php/rvg/article/view/40880/46839; https://doaj.org/toc/1315-9984; https://doaj.org/toc/2477-9423

Access URL: https://doaj.org/article/2c3c5e2661774914a09e9d2c10da99cb

Neuropsychiatry in a case of Sotos syndrome

Authors: Enma Taimara Cisnero-Acosta, Ana Tamara Cisnero-Acosta, Vivina Claudina Castelló-Benítez

Source: Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, Vol 48, Iss 0, Pp e3488-e3488 (2023)

Subject Terms: síndrome de sotos, conducción agresiva, enfermedades genéticas congénitas, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://revzoilomarinello.sld.cu/index.php/zmv/article/view/3488; https://doaj.org/toc/1029-3027

Access URL: https://doaj.org/article/dde487f9872649d09be3305a39ef0032

Anoftalmía congénita bilateral

Authors: Doménica Jijón, Tania Carolina Pérez Cárdenas, Luis Celi Cueva, Rosario Vaca

Source: Revista Ecuatoriana de Pediatría, Vol 24, Iss 2 (2023)

Subject Terms: Anoftalmos, Niño, Enfermedades del Recién Nacido, Enfermedades Genéticas Congénitas, Prótesis e Implantes, Informes de Casos, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://rev-sep.ec/index.php/johs/article/view/211; https://doaj.org/toc/1390-3497; https://doaj.org/toc/2737-6494

Access URL: https://doaj.org/article/2336a4f20d824309817a3e469b49c8e6

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso

Authors: Yully Andrea Rangel, Eugenia Espinosa

Source: Biomédica: revista del Instituto Nacional de Salud, Vol 42, Iss 3, Pp 429-434 (2022)

Subject Terms: discapacidad intelectual, distonía, estimulación cerebral profunda, enfermedades genéticas congénitas, trastornos distónicos, trastornos del movimiento, Medicine, Arctic medicine. Tropical medicine, RC955-962

File Description: electronic resource

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/6296; https://doaj.org/toc/0120-4157; https://doaj.org/toc/2590-7379

Access URL: https://doaj.org/article/6de821314f154a1d8e23603649299713

Prader-Willi Syndrome. About a Case

Authors: Carlos Enrique Cruz Carrazana, Claudia García Carrazana

Source: Revista Finlay, Vol 11, Iss 2, Pp 207-211 (2021)

Subject Terms: enfermedades genéticas congénitas, enfermedad rara, informes de casos, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: http://www.revfinlay.sld.cu/index.php/finlay/article/view/869; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/e133693cfcbe4745bb65a62fb9628f89

Prader-Willi Syndrome. About a Case

Authors: Carlos Enrique Cruz Carrazana, Claudia García Carrazana

Source: Revista Finlay, Vol 11, Iss 2, Pp 207-211 (2021)

Subject Terms: enfermedades genéticas congénitas, enfermedad rara, informes de casos, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: https://revfinlay.sld.cu/index.php/finlay/article/view/869; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/f992b6fd713c4b08a8fd57bb8cfbe335

Skeletal Diseases of Genetic Cause: Experience in a National Reference Service

Authors: Estela Morales Peralta, Gretell Huertas Pérez

Source: Revista Finlay, Vol 11, Iss 1, Pp 4-9 (2021)

Subject Terms: enfermedades del desarrollo óseo, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: http://www.revfinlay.sld.cu/index.php/finlay/article/view/804; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/50732acbb0ec4481b058445245ebafe4

Enfermedades esqueléticas de causa genética: experiencia en un servicio de referencia nacional

Authors: Estela Morales Peralta, Gretell Huertas Pérez

Source: Revista Finlay, Vol 11, Iss 1, Pp 4-9 (2021)

Subject Terms: enfermedades del desarrollo óseo, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: https://revfinlay.sld.cu/index.php/finlay/article/view/804; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/8ae152f2ee7d4f9ea24a9f63978a9370

Síndrome de Axenfeld-Rieger. Presentación de un caso

Authors: Armando Rafael Milanés Armengol, Kattia Molina Castellanos, Yusnavy Lozano Curbelo, Marla Milanés Molina, Ángel Miguel Ojeda Leal

Source: Medisur, Vol 18, Iss 6, Pp 1233-1240 (2020)

Subject Terms: anomalías del ojo, enfermedades del iris, enfermedades genéticas congénitas, informes de casos, Medicine (General), R5-920, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://medisur.sld.cu/index.php/medisur/article/view/4839; https://doaj.org/toc/1727-897X

Access URL: https://doaj.org/article/592260cfbf1c410082a9a6ae3d694685

Incontientia Pigmenti: a genodermatosis beginning in childhood

Authors: Roine Alberto Pena Olivera, Leydiani Espin Guerra, Ana Laura Navarro Baldellot

Source: Revista Científica Estudiantil 2 de Diciembre, Vol 4, Iss 4, Pp e119-e119 (2021)

Subject Terms: cromosomas humanos x, enfermedades de la piel, enfermedades genéticas congénitas, enfermedades raras, herencia, incontinencia pigmentaria, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://revdosdic.sld.cu/index.php/revdosdic/article/view/119; https://doaj.org/toc/2788-6786

Access URL: https://doaj.org/article/059e7153ab004db2ace6d17f41269416

Diagnosis of Methyl Malonicaciduria from 2013 to 2018

Authors: Alina Concepción Álvarez, Ivette Camayd Viera, Norma Elena de León Ojeda, Alina García García, Laritza Martínez Rey, Daniel Quintana Hernández

Source: Revista Finlay, Vol 10, Iss 1, Pp 41-45 (2020)

Subject Terms: diagnóstico, ácido metilmalónico, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: http://www.revfinlay.sld.cu/index.php/finlay/article/view/775; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/84735761c6834eb1aa5125753abadb0c

Marfan Syndrome: Regarding Two Cases

Authors: Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández

Source: Revista Finlay, Vol 10, Iss 1, Pp 62-72 (2020)

Subject Terms: palabras clave: síndrome de marfán, enfermedades genéticas congénitas, enfermedades raras, diagnóstico, informes de casos, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: http://www.revfinlay.sld.cu/index.php/finlay/article/view/793; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/96ba189b247547c59cbadd856191fa6b

Diagnosis of Methyl Malonicaciduria from 2013 to 2018

Authors: Alina Concepción Álvarez, Ivette Camayd Viera, Norma Elena de León Ojeda, Alina García García, Laritza Martínez Rey, Daniel Quintana Hernández

Source: Revista Finlay, Vol 10, Iss 1, Pp 41-45 (2020)

Subject Terms: diagnóstico, ácido metilmalónico, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: https://revfinlay.sld.cu/index.php/finlay/article/view/775; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/64f94347283d4256b8ee96212735af22

Marfan Syndrome: Regarding Two Cases

Authors: Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández

Source: Revista Finlay, Vol 10, Iss 1, Pp 62-72 (2020)

Subject Terms: palabras clave: síndrome de marfán, enfermedades genéticas congénitas, enfermedades raras, diagnóstico, informes de casos, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

File Description: electronic resource

Relation: https://revfinlay.sld.cu/index.php/finlay/article/view/793; https://doaj.org/toc/2221-2434

Access URL: https://doaj.org/article/bfab9fca9ec742bc86e414272ef66ec4

Valoración clínica, epidemiológica y del diagnóstico de Enfermería del síndrome de Usher

Authors: Nairovys Gómez Martínez, Nayaris Gómez Martínez, José Carlos Moreno Dominguez, Sonia Milena Rodríguez Camacho, Sandra Maria Jalilo Hernandez

Source: Revista de Ciencias Médicas de Pinar del Río, Vol 23, Iss 5, Pp 697-704 (2019)

Subject Terms: síndrome, síndromes de usher, pérdida auditiva/diagnóstico, enfermedades genéticas congénitas, retinitis pigmentosa., Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.revcmpinar.sld.cu/index.php/publicaciones/article/view/4070; https://doaj.org/toc/1561-3194

Access URL: https://doaj.org/article/1df1c33b9d6249e0beff3e1fb05e65a3

factores de riesgo asociados a cardiomiopatía dilatada en población pediátrica con anemia de células falciformes

Authors: Jorge Ortiz Castro, Ilse Salas Angulo

Source: Revista Ciencias Biomédicas, Vol 4, Iss 2 (2020)

Subject Terms: Anemia de células falciformes, Cardiomiopatía dilatada, Niño, Hematología, Enfermedades genéticas congénitas., Medicine (General), R5-920

File Description: electronic resource

Relation: https://revistas.unicartagena.edu.co/index.php/cbiomedicas/article/view/2820; https://doaj.org/toc/2215-7840; https://doaj.org/toc/2389-7252

Access URL: https://doaj.org/article/1251c26292194c199661b7de9e7dbcfc

Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis

Authors: Melissa Toledo Licourt, Ana Laura Téllez García, Deysi Licourt Otero

Source: Universidad Médica Pinareña, Vol 15, Iss 2, Pp 272-278 (2019)

Subject Terms: fibrosis quística, enfermedades genéticas congénitas, enfermedades del recién nacido, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://revgaleno.sld.cu/index.php/ump/article/view/348; https://doaj.org/toc/1990-7990

Access URL: https://doaj.org/article/a2c1664bee3449baab2dbee0fd196980

Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis

Authors: Melissa Toledo Licourt, Ana Laura Téllez García, Deysi Licourt Otero

Source: Universidad Médica Pinareña, Vol 15, Iss 2, Pp 272-278 (2019)

Subject Terms: fibrosis quística, enfermedades genéticas congénitas, enfermedades del recién nacido, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.revgaleno.sld.cu/index.php/ump/article/view/348; https://doaj.org/toc/1990-7990

Access URL: https://doaj.org/article/a363d7f1938244638b493981c2becac1

Síndrome de Brugada, un reto para el conocimiento actual

Authors: Laura Candelaria Almelo Hernández, Antonio Aguiar García, Madelyn Aguiar García, Alexanders García Balmaseda, Yamilka Miranda Pérez

Source: Universidad Médica Pinareña, Vol 13, Iss 1, Pp 1-45 (2017)

Subject Terms: síndrome de brugada, enfermedades genéticas congénitas, canalopatías., Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://revgaleno.sld.cu/index.php/ump/article/view/251; https://doaj.org/toc/1990-7990

Access URL: https://doaj.org/article/7bf58b553eca47dda85a293a12e89561