Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Musa Kockaya"'
Autor:
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment
Externí odkaz:
https://doaj.org/article/d1420f1c464d4e51b184e3fd1fc57e55
Autor:
Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich Trefz
Publikováno v:
Molecules, Vol 28, Iss 13, p 4916 (2023)
Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur
Externí odkaz:
https://doaj.org/article/79d4e93690414af8a5b7ad7677919e00
Autor:
Trefz, Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich
Publikováno v:
Molecules; Volume 28; Issue 13; Pages: 4916
Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur
Autor:
Wolfgang Müller-Felber, Manfred Spraul, A. Blaschek, Georg F. Hoffmann, Musa Kockaya, Claire Cannet, Jürgen G. Okun, Andreas Roos, Katharina Vill, Andreas Hahn, Friedrich K. Trefz, Afshin Saffari, Markus Weiler, Wolfgang Wick, Romy Kirsten, Hartmut Schäfer, Jessika Johannsen, Andreas Ziegler, Ulrike Schara, Stefan Kölker
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prog