Spanish
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
sarcoglycanopathies/creatinina
El enlace se guarda en el portapapeles.
4 resultados
Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
BACKGROUND
The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The
Incidental raised transaminases: a clue to muscle disease.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19 males aged between 2 and 11 years [mean (SD) 6.7 (3.4) y]. Serum alanine and aspartate transaminase levels were between 73 and 595 IU/L (30-35)
Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented.
La base de datos de hierbas medicinales más completa respaldada por la ciencia
- Funciona en 55 idiomas
- Curas a base de hierbas respaldadas por la ciencia
- Reconocimiento de hierbas por imagen
- Mapa GPS interactivo: etiquete hierbas en la ubicación (próximamente)
- Leer publicaciones científicas relacionadas con su búsqueda
- Buscar hierbas medicinales por sus efectos.
- Organice sus intereses y manténgase al día con las noticias de investigación, ensayos clínicos y patentes.
Escriba un síntoma o una enfermedad y lea acerca de las hierbas que podrían ayudar, escriba una hierba y vea las enfermedades y los síntomas contra los que se usa.
* Toda la información se basa en investigaciones científicas publicadas.
