Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Stefanie Rosenbaum-Fabian"'
Autor:
Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 303-308 (2022)
Abstract Glycogen storage disease type Ib (GSD Ib) is caused by biallelic variants in SLC37A4. GSD Ib is characterized by hepatomegaly, recurrent hypoglycemia, neutropenia, and neutrophil dysfunction. Only seven pregnancies in four women with GSD Ib
Externí odkaz:
https://doaj.org/article/f39b0e2f7b604f3cb0459b45f113f3c8
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:
Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil
Externí odkaz:
https://doaj.org/article/900557e41e514fa59d0d7f2d8ec7418c
Autor:
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, Anke Schumann, Ute Spiekerkoetter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100770- (2021)
Glycogen storage disease type VI is caused by biallelic variants in the PYGL gene that result in hepatic glycogen phosphorylase deficiency. The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy. Alth
Externí odkaz:
https://doaj.org/article/ca1e53ba6e10410d9857906b2eaa8a53
Autor:
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter
Publikováno v:
Nutrition Journal, Vol 17, Iss 1, Pp 1-7 (2018)
Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These
Externí odkaz:
https://doaj.org/article/2b021ea048044cc791d26cecfbcc13fc
Autor:
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter
Publikováno v:
Diagnostics, Vol 11, Iss 3, p 500 (2021)
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature. Results: We report on t
Externí odkaz:
https://doaj.org/article/9058077be153487596ac494a21ae45ad
Autor:
Friederike Bärhold, Uta Meyer, Anne-Kathrin Neugebauer, Eva Maria Thimm, Dinah Lier, Stefanie Rosenbaum-Fabian, Ulrike Och, Anna Fekete, Dorothea Möslinger, Carmen Rohde, Skadi Beblo, Michel Hochuli, Nina Bogovic, Vanessa Korpel, Stephan vom Dahl, Sebene Mayorandan, Aleksandra Fischer, Peter Freisinger, Katharina Dokoupil, Margret Heddrich-Ellerbrok, Monika Jörg-Streller, Agnes van Teeffelen-Heithoff, Janina Lahl, Anibh Martin Das
Publikováno v:
Nutrients, Vol 13, Iss 1, p 134 (2020)
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
Externí odkaz:
https://doaj.org/article/d2e9a9f6726d4e4a9fd7ec4da43b5885
Autor:
Carmen Rohde, Alena Gerlinde Thiele, Ulrike Och, Katrin Schönherr, Uta Meyer, Stefanie Rosenbaum-Fabian, Cornelia Maddalon, Sabine Matzken, Holger Blessing, Frauke Lang, Monika Jörg-Streller, Skadi Beblo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 36-41 (2015)
Background: A phenylalanine (Phe) restricted dietary management is required in phenylketonuria (PKU) to maintain good metabolic control. Nevertheless, five different models of dietary regimes, which differ in their accuracy of Phe documentation, are
Externí odkaz:
https://doaj.org/article/d6d6e5d2bd854715950e32f5969dd02c
Autor:
Julia Hinkel, Johannes Schmitt, Michael Wurm, Stefanie Rosenbaum-Fabian, Karl Otfried Schwab, Donald W. Jacobsen, Ute Spiekerkoetter, Sergey N. Fedosov, Luciana Hannibal, Sarah C. Grünert
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, p 2326 (2020)
Background: Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism affecting the synthesis or breakdown of glycogen in the liver. This study, for the first time, systematically assessed vitamin B12 status in a large cohort of hepati
Externí odkaz:
https://doaj.org/article/77fddebd4386424f94f71b01da372b3e
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