Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Katharina J. Weiss"'
Autor:
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system
Externí odkaz:
https://doaj.org/article/8d5fce646f904af18efa0edc44a89bef
Autor:
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100776- (2021)
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening par
Externí odkaz:
https://doaj.org/article/5f0d5e05e2394367adf0bad45b47bf81
Autor:
Katharina J. Weiss, Ursula Berger, Maliha Haider, Matias Wagner, E. M. Charlotte Märtner, Stephanie Regenauer‐Vandewiele, Amelie Lotz‐Havla, Elfriede Schuhmann, Wulf Röschinger, Esther M. Maier
Publikováno v:
Clinical Genetics. 103:644-654
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd57128eb025111628405c2e66821da3
https://doi.org/10.1111/cge.14316
https://doi.org/10.1111/cge.14316
Autor:
Sandra Fleissner, Esther M. Maier, Katharina J. Weiß, Katharina Dokoupil, Katharina A. Schiergens
Publikováno v:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 63:864-871
ZusammenfassungBei vielen angeborenen Stoffwechselkrankheiten ist eine lebensbegleitende Diät von Geburt an fester Bestandteil der Therapie. Alternative medikamentöse Therapieansätze stehen erst für einige wenige Patienten zur Verfügung. Am Beis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e18fff0c07f7c18fbc6622688eb8921
https://doi.org/10.1007/s00103-020-03168-x
https://doi.org/10.1007/s00103-020-03168-x
Autor:
Stefan Dehmel, Katharina J. Weiss, Natalia El-Merhie, Jens Callegari, Birte Konrad, Kathrin Mutze, Oliver Eickelberg, Melanie Königshoff, Susanne Krauss-Etschmann
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1420
Genes 13:1420 (2022)
Genes 13:1420 (2022)
Alveolar type II (ATII) cells are essential for the maintenance of the alveolar homeostasis. However, knowledge of the expression of the miRNAs and miRNA-regulated networks which control homeostasis and coordinate diverse functions of murine ATII cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd990d972d38ef9f4c2b3e4644dbae7a
https://doi.org/10.3390/genes13081420
https://doi.org/10.3390/genes13081420
Autor:
S. Ulrich, Joachim Kreuder, Wulf Röschinger, Robert Dalla Pozza, Birgit Odenwald, Esther M. Maier, Katharina J. Weiss, Joachim Schmitt, Katharina A. Schiergens, Amelie S. Lotz-Havla
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100776-(2021)
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100776-(2021)
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace8b9451e1473b027d18b0680ab4f00
https://pubmed.ncbi.nlm.nih.gov/34178604
https://pubmed.ncbi.nlm.nih.gov/34178604
Autor:
Denny Kutter, Katharina J. Weiss
Publikováno v:
SSRN Electronic Journal.
This study examines the relative importance of CEOs and CFOs for firms’ financial misreporting. We leverage the concept of “manager style” to investigate to what extent CEOs versus CFOs incrementally affect financial misreporting after controll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eed08a82163bbe57c227907d10f6bfa
https://doi.org/10.2139/ssrn.3777935
https://doi.org/10.2139/ssrn.3777935
Autor:
Katharina A, Schiergens, Katharina J, Weiß, Katharina, Dokoupil, Sandra, Fleissner, Esther M, Maier
Publikováno v:
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz. 63(7)
For many inborn metabolic diseases, a lifelong diet is a crucial part of the therapy since pharmacological therapy is available for only a few conditions and patients. The implementation of a low natural protein diet with a reduced intake of natural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::557c4f028369bb47bd5473ad6e935e8d
https://pubmed.ncbi.nlm.nih.gov/32542434
https://pubmed.ncbi.nlm.nih.gov/32542434
Autor:
Esther M. Maier, Amelie S. Lotz-Havla, Katharina J. Weiss, Holger Blessing, Wulf Röschinger, Katharina A. Schiergens
Publikováno v:
Annals of nutritionmetabolism. 76(4)
Background: The detection of methylmalonic acid (MMA) by second-tier analysis has been shown to reduce the number of false positives in newborn screening (NBS) for genetically determined methylmalonic acidurias (MMAuria). In addition to genetic condi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb518b139b3e7374229fda4191bd5c9
https://pubmed.ncbi.nlm.nih.gov/32683363
https://pubmed.ncbi.nlm.nih.gov/32683363
Autor:
Katharina J. Weiß, Ulfert Gronewold
Publikováno v:
SSRN Electronic Journal.
The international standard-setting process has always been perceived as a political process determined by self-interested parties that aim to influence the outcome of the International Accounting Standards Board (IASB). Although Sutton (1984) noted t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::272a930e6ad5bd3f2ffe6df7193cd153
https://doi.org/10.2139/ssrn.3628437
https://doi.org/10.2139/ssrn.3628437