Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kathrin Jeltsch"'
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Manju A. Kurian, Simon Pope, Francesco Porta, Oya Kuseyri Hübschmann, Roser Pons, Jennifer Friedman, Birgit Assmann, Yilmaz Yildiz, Alberto Burlina, Kathrin Jeltsch, Toni S. Pearson, Helly Goez, Angeles Garcia-Cazorla, Rafael Artuch, Vincenzo Leuzzi, Simon Heales, Sabine Scholl-Bürgi, H. Serap Sivri, Thomas Opladen, Georg F. Hoffmann, Tessa Wassenberg, Marcel M. Verbeek, Eduardo López-Laso, Mario Mastrangelo, Tomas Honzik, Jan Kulhánek, Gabriella Horvath, Luc Régal, Elisenda Cortès-Saladelafont, Beat Thöny
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Tetrahydrobiopterin (BHAlthough the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH
Autor:
Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
BackgroundTetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4biosynthesis or recycl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0605a6e02a35c8c305cd624486cf4ef