Výsledky vyhledávání - "Johanna Hammersen"

Akademický článek

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Autor: Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or an

Externí odkaz: https://doaj.org/article/0150e33520264ab79bca69a84cac4ccc

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Metabolic control during the first two years of the COVID-19 pandemic in pediatric patients with type 1 diabetes: results from the German DPV initiative

Autor: Johanna Hammersen, Sascha R. Tittel, Semik Khodaverdi, Felix Reschke, Monika Flury, Ulrike Menzel, Kirsten Mönkemöller, Thomas Meissner, Beate Karges, Reinhard W. Holl

Publikováno v: Acta Diabetologica. 60:757-766

Aim To assess effects of the SARS-CoV2 pandemic on metabolic control in youth with type 1 diabetes (T1D) in Germany in a population-based analysis. Methods Data from 33,372 pediatric T1D patients from the Diabetes Prospective Follow-up (DPV) registry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bba0e412ef83c39414194ec9ab443204
https://doi.org/10.1007/s00592-023-02050-x

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Epidemiology of inherited epidermolysis bullosa in Germany

Publikováno v: Journal of the European Academy of Dermatology and Venereology. 37:402-410

Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.Epidemiological data from different countries have been published, but none are available from Germany.In thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfb5aa8b93967aceab2ce21881aca83
https://doi.org/10.1111/jdv.18637

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Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism – experiences from the DGKED/AQUAPE study group for quality improvement in Germany

Autor: Johanna Hammersen, Markus Bettendorf, Walter Bonfig, Eckhard Schönau, Katharina Warncke, Alexander J. Eckert, Susanne Fricke-Otto, Katja Palm, Reinhard W. Holl, Joachim Woelfle

Publikováno v: Medizinische Genetik. 34:29-40

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca5efcaf71cee73a0beb5f8f7207e976
https://doi.org/10.1515/medgen-2022-2114

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Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant

Autor: Sven Kehl, Joachim Woelfle, Johanna Hammersen, Christian Y. Mardin, Antje Neubert, Jörg Jüngert, Patrick Morhart, Holm Schneider, Michael Schneider, Alexander Hein, Wolfgang Schuh, Katharina Hermes, Manfred Rauh, Sigrun Maier-Wohlfart

Publikováno v: European Journal of Pediatrics

The risk and potential consequences of mother-to-child transmission of severe acute respiratory syndrome-coronavirus type 2 (SARS-CoV-2) during pregnancy are still a matter of debate. We studied the impact of SARS-CoV-2 infection on 56 complete house

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9fc15a85263f2e6b4c7af88b5c9c51b
https://doi.org/10.1007/s00431-021-04221-w

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Homozygous familial hypercholesterolemia with severe involvement of the aortic valve—A sibling‐controlled case study on the efficacy of lipoprotein apheresis

Autor: Julia Moosmann, Matthias Galiano, Reinhard Klingel, Martin Schöber, Katja Sauerstein, Ariawan Purbojo, Johanna Hammersen, Holger Blessing, Gunter Raffelsbauer, Andreas Heibges, Petra Rümmele

Publikováno v: Journal of Clinical Apheresis. 35:163-171

Background Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331983123d69d18fe428915136bda231
https://doi.org/10.1002/jca.21772

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Frequency of ketoacidosis at diagnosis of pediatric type 1 diabetes associated with socioeconomic deprivation and Uubanization: Results from the German Multicenter DPV Registry

Autor: Marie Auzanneau, Joachim Rosenbauer, Katharina Warncke, Werner Maier, Clemens Kamrath, Thomas Hofmann, Michael Wurm, Johanna Hammersen, Carmen Schröder, Kathrin Hake, Reinhard W. Holl

Publikováno v: Diabetes Care 45, 1807-1813 (2022)

OBJECTIVE To investigate whether socioeconomic deprivation and urbanization are associated with the frequency of diabetic ketoacidosis (DKA) at diagnosis of pediatric type 1 diabetes. RESEARCH DESIGN AND METHODS Children and adolescents aged ≤18 ye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8494458715ee26abf2e232d567ec53de
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65548

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