Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Andrea Zühlsdorf"'
Autor:
Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 33-40 (2017)
Introduction: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and gro
Externí odkaz:
https://doaj.org/article/10d9db70a03446e5b7eab4cad03b3098
Autor:
Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either PKD1 or PKD2 genes that encode for integral membrane
Externí odkaz:
https://doaj.org/article/e04731d0c73d491ab68b05814a86a46b
Autor:
Andrea Zühlsdorf, Philipp Kümpers, Christian Thomas, Lejla Mulahasanovic, Sven G. Meuth, Heinz Wiendl, Konstanze Hörtnagel, Oliver Grauer
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Frontiers in Neurology
Frontiers in Neurology
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either PKD1 or PKD2 genes that encode for integral membrane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997ac52ff7d36cee25a2a3df2dd7684d
https://www.frontiersin.org/article/10.3389/fneur.2018.00383/full
https://www.frontiersin.org/article/10.3389/fneur.2018.00383/full
Autor:
Thorsten Marquardt, Andrea Zühlsdorf, Janine Reunert, Claudia Roll, Julien H. Park, Marianne Grüneberg, Yoshinao Wada, Stephan Rust, Ingrid Du Chesne
Publikováno v:
Clinica Chimica Acta. 447:115-117
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45eb0ded23678796f4ac5ad998bb4ede
https://doi.org/10.1016/j.cca.2015.04.001
https://doi.org/10.1016/j.cca.2015.04.001
Autor:
Yoshinao Wada, Marianne Grüneberg, Julien Heinrich Park, Thorsten Marquardt, Ingrid DuChesne, Stephan Rust, Janine Reunert, Andrea Zühlsdorf
Publikováno v:
Clinical Biochemistry. 48:11-13
Objectives Transferrin variants can hinder the diagnostic process in cases of suspected Congenital disorders of glycosylation which affect N-Glycosylation. In addition they can impair the use of Carbohydrate deficient Transferrin as a biomarker for c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b356ebe8a3c313b9c3b0263e2505ca1
https://doi.org/10.1016/j.clinbiochem.2014.09.022
https://doi.org/10.1016/j.clinbiochem.2014.09.022
Autor:
Yoshinao Wada, Christoph Seger, Marianne Grüneberg, Julien H. Park, Ingrid DuChesne, Michael Said, Andrea Zühlsdorf, Stephan Rust, Janine Reunert, Thorsten Marquardt
Publikováno v:
Alcohol and alcoholism (Oxford, Oxfordshire). 51(2)
Aims Elevated Carbohydrate-deficient transferrin (CDT) levels are used as a biomarker in order to screen for chronic alcohol abuse. Transferrin (Tf) variants can impair methods to measure elevated CDT levels such as high-performance liquid chromatogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046838f0b1374f1f4ca8ee2f18efb87c
https://pubmed.ncbi.nlm.nih.gov/26333807
https://pubmed.ncbi.nlm.nih.gov/26333807
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation
Autor:
Andrea Zühlsdorf, Thorsten Marquardt, Yoshinao Wada, Claudia Roll, Marianne Grüneberg, Julien H. Park, Stephan Rust, Ingrid Du Chesne, Janine Reunert
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 436
Background The analysis of serum transferrin either by high-performance liquid chromatography (HPLC) or isoelectric focusing (IEF) is the standard diagnostic procedure in patients with the suspicion of a congenital disorder of glycosylation (CDG). Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae74a51cf174ef1c4506b26b28e03b83
https://pubmed.ncbi.nlm.nih.gov/24875750
https://pubmed.ncbi.nlm.nih.gov/24875750