Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Neslihan Ö. Mungan"'
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
Autor:
Faruk incecik, Ozlem M Herguner, Gulen Mert, seyda Besen, Deniz Kor, Berna S. Yilmaz, Neslihan O. Mungan, sakir Altunbasak
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 5-7 (2015)
McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise,
Externí odkaz:
https://doaj.org/article/7496d661b2314de995e66e393c6f3470