Portuguese
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)
clubfoot/carbohydrate
O link é salvo na área de transferência
5 resultados
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Apenas usuários registrados podem traduzir artigos
Entrar Inscrever-se
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Apenas usuários registrados podem traduzir artigos
Entrar Inscrever-se
Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Apenas usuários registrados podem traduzir artigos
Entrar Inscrever-se
Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Apenas usuários registrados podem traduzir artigos
Entrar Inscrever-se
OBJECTIVE
Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14)
Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
Apenas usuários registrados podem traduzir artigos
Entrar Inscrever-se
Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint
O mais completo banco de dados de ervas medicinais apoiado pela ciência
- Funciona em 55 idiomas
- Curas herbais apoiadas pela ciência
- Reconhecimento de ervas por imagem
- Mapa GPS interativo - marcar ervas no local (em breve)
- Leia publicações científicas relacionadas à sua pesquisa
- Pesquise ervas medicinais por seus efeitos
- Organize seus interesses e mantenha-se atualizado com as notícias de pesquisa, testes clínicos e patentes
Digite um sintoma ou doença e leia sobre ervas que podem ajudar, digite uma erva e veja as doenças e sintomas contra os quais ela é usada.
* Todas as informações são baseadas em pesquisas científicas publicadas
