Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Dinah Lier"'
Autor:
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in ad
Externí odkaz:
https://doaj.org/article/aea8e94a91794798a7a780ce218e42b2
Autor:
Dinah Lier, Matej Skorvanek, Julius Huebl, Jan Frederik Fischer, Christos Ganos, Tina Mainka, Athanasia Ziagaki, Andrea A. Kühn, Tom J. de Koning, Peter Freisinger, Alexandra Jung, Alexandra Mosejova
Publikováno v:
Parkinsonism & Related Disorders, 89, 167-175. Elsevier
Introduction Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with frequent neurological and neuropsychiatric complications, especially in undiagnosed or insufficiently treated individuals. Given the wide range of clinical presen
Autor:
Karina Grohmann‐Held, Peter Burgard, Christoph G. O. Baerwald, Skadi Beblo, Stephan vom Dahl, Anibh Das, Katharina Dokoupil, Sandra Fleissner, Peter Freisinger, Margret Heddrich‐Ellerbrok, Alexandra Jung, Vanessa Korpel, Johannes Krämer, Dinah Lier, Esther M. Maier, Uta Meyer, Chris Mühlhausen, Martha Newger, Ulrike Och, Ursula Plöckinger, Stefanie Rosenbaum‐Fabian, Frank Rutsch, René Santer, Petra Schick, Martin Schwarz, Ute Spiekerkötter, Ursula Strittmatter, Alena G. Thiele, Athanasia Ziagaki, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Stefan Kölker
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(6)
To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120-360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and ide
Autor:
Margret Heddrich-Ellerbrok, Vanessa Korpel, Carmen Rohde, Anibh M. Das, Katharina Dokoupil, Dinah Lier, Dorothea Möslinger, Stephan vom Dahl, Aleksandra Fischer, U. Meyer, Friederike Bärhold, Skadi Beblo, Eva Thimm, Sebene Mayorandan, Stefanie Rosenbaum-Fabian, Agnes van Teeffelen-Heithoff, Janina Lahl, Anne-Kathrin Neugebauer, Anna Fekete, Nina Bogovic, Monika Jörg-Streller, Michel Hochuli, Peter Freisinger, Ulrike Och
Publikováno v:
Nutrients
Nutrients, Vol 13, Iss 134, p 134 (2021)
Volume 13
Issue 1
Nutrients, Vol 13, Iss 134, p 134 (2021)
Volume 13
Issue 1
Background: Tyrosinaemia type 1 is a rare inherited metabolic disease caused by an enzyme defect in the tyrosine degradation pathway. It is treated using nitisinone and a low-protein diet. In a workshop in 2013, a group of nutritional specialists fro
Publikováno v:
Geburtshilfe und Frauenheilkunde. 73:28-31
Eine Infektion mit humanen Papillomviren der Hochrisikogruppe (HR‑HPV) ist die notwendige Voraussetzung fur das Zervixkarzinom und seine Vorstufen [1]. Solch eine Infektion mit HR‑HPV kann mithilfe eines HPV-Tests nachgewiesen werden. Wenn ein Na