Congenital fiber-type disproportion myopathy: a case study
Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessiv...
Main Authors: | Haro Hernández, B. J. de, Macouzet Sánchez, Carlos, Rodríguez Balderrama, Isaías, O Cavazos, Manuel Enrique de la |
---|---|
Format: | Article |
Language: | English |
Published: |
UANL. Facultad de Medicina
2015
|
Subjects: | |
Online Access: | http://eprints.uanl.mx/11489/1/S1665579614000027_S300_en.pdf |
Similar Items

Spectrum of hemifacial microsomia in a pre-term newborn: case presentation and literature review
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2015)
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2015)

Spondylothoracic dysostosis, Jarcho Levin syndrome: case report
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2016)
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2016)

Sensitivity of histological chorioaminionitis and premature rupture of membranes for neonatal sepsis and its risk factors
by: Rodríguez Balderrama, Isaías, et al.
Published: (2016)
by: Rodríguez Balderrama, Isaías, et al.
Published: (2016)

Efficacy and safety of ultrasound-guided internal jugular vein catheterization in low birth weight newborn
by: Montes Tapia, Fernando Félix, et al.
Published: (2016)
by: Montes Tapia, Fernando Félix, et al.
Published: (2016)

Ultrasound- guided placement of double catheter in the right internal jugular vein: two case reports
by: Montes Tapia, Fernando Félix, et al.
Published: (2014)
by: Montes Tapia, Fernando Félix, et al.
Published: (2014)

Prevalence of eosinophilic esophagitis: A multicenter study on a pediatric population evaluated at thirty-six Latin American gastroenterology centers
by: Pierre, R., et al.
Published: (2019)
by: Pierre, R., et al.
Published: (2019)

Sensibilidad y especificidad de un refractómetro visual en el diagnóstico rápido de hipoglicemia en neonatos
by: González García, María de Montserrat, et al.
Published: (1999)
by: González García, María de Montserrat, et al.
Published: (1999)

Long QT syndrome in a neonate
by: Rodríguez Balderrama, Isaías, et al.
Published: (2015)
by: Rodríguez Balderrama, Isaías, et al.
Published: (2015)

Risk factors and the relation of lactic acid to neonatal
mortality in the first week of life
by: Rodríguez Balderrama, Isaías, et al.
Published: (2016)
by: Rodríguez Balderrama, Isaías, et al.
Published: (2016)

Taponamiento cardiaco “tardío”: una complicación rara de los catéteres venosos centrales
by: Rodríguez Balderrama, Isaías, et al.
Published: (2000)
by: Rodríguez Balderrama, Isaías, et al.
Published: (2000)

Eosinofilia en un neonato prematuro de 690 g.
by: González García, María de Montserrat, et al.
Published: (1998)
by: González García, María de Montserrat, et al.
Published: (1998)

Técnica de Seldinger modificada, para accesar a la yugular interna en neonatos
by: Zavala Galván, Norma Angélica, et al.
Published: (1999)
by: Zavala Galván, Norma Angélica, et al.
Published: (1999)

Traumatic asphyxia
by: Montes Tapia, Fernando Félix, et al.
Published: (2014)
by: Montes Tapia, Fernando Félix, et al.
Published: (2014)

Factor de transferencia bovino en el choque séptico neonatal
by: Rodríguez Balderrama, Isaías, et al.
Published: (1999)
by: Rodríguez Balderrama, Isaías, et al.
Published: (1999)

Uso de aplicación móvil como método de aprendizaje en lactancia materna en estudiantes de medicina
by: De la O Escamilla, Norma Olivia
Published: (2020)
by: De la O Escamilla, Norma Olivia
Published: (2020)

Resultados en el neurodesarrollo después de cirugía cardíaca abierta en pacientes pediátricos
by: De la O Vega, Joshua Rodrigo
Published: (2020)
by: De la O Vega, Joshua Rodrigo
Published: (2020)

Resultados en el neurodesarrollo después de cirugía cardíaca abierta en pacientes pediátricos
by: De la O Vega, Joshua Rodrigo
Published: (2020)
by: De la O Vega, Joshua Rodrigo
Published: (2020)

Uso de aplicación móvil como método de aprendizaje en lactancia materna en estudiantes de medicina
by: De la O Escamilla, Norma Olivia
Published: (2020)
by: De la O Escamilla, Norma Olivia
Published: (2020)

Vascular assessment of the right internal jugular vein in low birth weight newborns
by: Montes Tapia, Fernando Félix, et al.
Published: (2013)
by: Montes Tapia, Fernando Félix, et al.
Published: (2013)

Características clínicas y demográficas de sífilis congénita temprana en un hospital de tercer nivel en México
by: Pérez Cavazos, Samantha
Published: (2022)
by: Pérez Cavazos, Samantha
Published: (2022)

Características clínicas y demográficas de sífilis congénita temprana en un hospital de tercer nivel en México
by: Pérez Cavazos, Samantha
Published: (2022)
by: Pérez Cavazos, Samantha
Published: (2022)

Successful Autologous Stem-Cell Transplantation Without the Use of Antithymocyte Globulin in a Patient with Refractory Systemic Juvenile Idiopathic Arthritis
by: García Rodríguez, Fernando, et al.
Published: (2022)
by: García Rodríguez, Fernando, et al.
Published: (2022)

Atypical Lemierre’s syndrome caused by Prevotella oris
by: Garza Alatorre, Arturo Gerardo, et al.
Published: (2015)
by: Garza Alatorre, Arturo Gerardo, et al.
Published: (2015)

Bacteremia por stenotrophomona maltophilia en población pediátrica: caracterización e identificación de factores de riesgo y pronóstico terapéutico
by: Castillo Cavazos, Luis Gerardo
Published: (2021)
by: Castillo Cavazos, Luis Gerardo
Published: (2021)

Caracterización clínica y microbiológica de las infecciones de pacientes hemato-oncológicos pediátricos con neutropenia febril en un hospital de tercer nivel en México
by: Castillo Cavazos, Luis Gerardo
Published: (2023)
by: Castillo Cavazos, Luis Gerardo
Published: (2023)

Bacteremia por stenotrophomona maltophilia en población pediátrica: caracterización e identificación de factores de riesgo y pronóstico terapéutico
by: Castillo Cavazos, Luis Gerardo
Published: (2021)
by: Castillo Cavazos, Luis Gerardo
Published: (2021)

Caracterización clínica y microbiológica de las infecciones de pacientes hemato-oncológicos pediátricos con neutropenia febril en un hospital de tercer nivel en México
by: Castillo Cavazos, Luis Gerardo
Published: (2023)
by: Castillo Cavazos, Luis Gerardo
Published: (2023)

Impacto del estado nutricional en pacientes con hemofilia y su relación con la tasa anual de sangrado y calidad de vida
by: Salazar Cavazos, Lorena del Carmen
Published: (2022)
by: Salazar Cavazos, Lorena del Carmen
Published: (2022)

Impacto del estado nutricional en pacientes con hemofilia y su relación con la tasa anual de sangrado y calidad de vida
by: Salazar Cavazos, Lorena del Carmen
Published: (2022)
by: Salazar Cavazos, Lorena del Carmen
Published: (2022)

Outcomes of transitional care programs on adolescent chronic inflammatory systemic diseases: systematic review and meta-analyses
by: García Rodríguez, Fernando, et al.
Published: (2022)
by: García Rodríguez, Fernando, et al.
Published: (2022)

Reliability of ultrasonography to detect inflammatory lesions and structural damage in juvenile idiopathic arthritis
by: Ventura Ríos, Lucio, et al.
Published: (2018)
by: Ventura Ríos, Lucio, et al.
Published: (2018)

Economic impact of Juvenile Idiopathic Arthritis: a systematic review
by: García Rodríguez, Fernando, et al.
Published: (2021)
by: García Rodríguez, Fernando, et al.
Published: (2021)

Identification of Quasi-Stationary Dynamic Objects with the Use of Derivative Disproportion Functions
by: Kalashnikov, Vyacheslav V., et al.
Published: (2017)
by: Kalashnikov, Vyacheslav V., et al.
Published: (2017)

Identification of Quasi-Stationary Dynamic Objects with the Use of Derivative Disproportion Functions
by: Kalashnikov, Vyacheslav V., et al.
Published: (2017)
by: Kalashnikov, Vyacheslav V., et al.
Published: (2017)

Índice diámetro de vaina del nervio óptico sobre diámetro transversal del globo ocular como predictor del desenlace clínico en pacientes pediátricos con traumatismo craneoencefálico severo.
by: Garcia Maytorena, Juan Enrique
Published: (2022)
by: Garcia Maytorena, Juan Enrique
Published: (2022)

Índice diámetro de vaina del nervio óptico sobre diámetro transversal del globo ocular como predictor del desenlace clínico en pacientes pediátricos con traumatismo craneoencefálico severo.
by: Garcia Maytorena, Juan Enrique
Published: (2022)
by: Garcia Maytorena, Juan Enrique
Published: (2022)

Seventeen myositis autoantibodies: serological profile of hispanic patients with idiopathic inflammatory myopathies
by: Gracia Aréchiga, Tayde Sarahi, et al.
Published: (2018)
by: Gracia Aréchiga, Tayde Sarahi, et al.
Published: (2018)

Impacto de la pandemia por covid-19 sobre la salud mental de los niños y adolescentes del estado de Nuevo León
by: De la Rosa Tamez, Sandra
Published: (2023)
by: De la Rosa Tamez, Sandra
Published: (2023)

Impacto de la pandemia por covid-19 sobre la salud mental de los niños y adolescentes del estado de Nuevo León
by: De la Rosa Tamez, Sandra
Published: (2023)
by: De la Rosa Tamez, Sandra
Published: (2023)

Percepción de seguridad alimentaria en el hogar según diversidad dietética en niños
by: Uribe de la Rocha, Noemi Abigail
Published: (2015)
by: Uribe de la Rocha, Noemi Abigail
Published: (2015)
Similar Items
-
Spectrum of hemifacial microsomia in a pre-term newborn: case presentation and literature review
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2015) -
Spondylothoracic dysostosis, Jarcho Levin syndrome: case report
by: Medina de la Cruz, Antonia Yesenia, et al.
Published: (2016) -
Sensitivity of histological chorioaminionitis and premature rupture of membranes for neonatal sepsis and its risk factors
by: Rodríguez Balderrama, Isaías, et al.
Published: (2016) -
Efficacy and safety of ultrasound-guided internal jugular vein catheterization in low birth weight newborn
by: Montes Tapia, Fernando Félix, et al.
Published: (2016) -
Ultrasound- guided placement of double catheter in the right internal jugular vein: two case reports
by: Montes Tapia, Fernando Félix, et al.
Published: (2014)