Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Guenter F. Pilz"'
Publikováno v:
Diagnostics, Vol 11, Iss 7, p 1300 (2021)
Far too often, one meets patients who went for years or even decades from doctor to doctor without obtaining a valid diagnosis. This brings pain to millions of patients and their families, not to speak of the enormous costs. Often patients cannot tel
Externí odkaz:
https://doaj.org/article/e858bc46d1374235baeea557b90f85d6
Background Far too often, one meets patients who went for years or even decades from doctor to doctor, without getting a valid diagnosis. This brings pain to millions of patients and their families, not to speak of the enormous costs. Often patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4115aa6c49d4e72691cf924da9291b3b
https://doi.org/10.21203/rs.2.23479/v1
https://doi.org/10.21203/rs.2.23479/v1
Autor:
Richard C Dodel, Guenter F. Pilz, Susanne Rinné, Bilgen Kurt, Andreas Maieron, Muhidien Soufi, Juergen R. Schaefer, Tobias Mueller, Niels Decher, Volker Ruppert
Publikováno v:
Neurology Genetics. 4:e274
ObjectiveTo identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of KCNJ18 mutations.MethodsA candidate gene approach was used to identify causative gene mutations, using Sange