Výsledky vyhledávání - "Jeannette Klein"

Akademický článek

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency d

Externí odkaz: https://doaj.org/article/ecc1ba82e63e4ae2b75a048aab8bf21f

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Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Autor: Giulia Rodella, Uta Matysiak, Jeannette Klein, Anna Sajeva, Natalie Weinhold, Francesca Menni, Christine Wagner, Sara Tucci, Francesca Furlan, Marco Spada, Sarah C. Grünert, Francesco Porta, A. Bordugo, Ute Spiekerkoetter

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 44(4)

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β-oxidation. Confirmation diagnostics after newborn screening (NBS) can be performed either by enzyme testing and/or by sequencing of the ACADM gene. H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8019cf8c25970cfb54f971da699adb56
https://pubmed.ncbi.nlm.nih.gov/33580884

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Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns

Autor: Oliver Blankenstein, Claudia Frömmel, Stephan Lobitz, Annemarie Brose, Jeannette Klein

Publikováno v: Annals of hematology. 98(1)

Sickle cell disease (SCD) is a severe inherited blood disorder associated with significant morbidity and mortality in early childhood. Since simple interventions are available to prevent early fatal courses, SCD is a target condition of several natio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b87db7f9abf1660ce11e41cb06711a
https://pubmed.ncbi.nlm.nih.gov/30132072

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Does the aromatic l-amino acid decarboxylase contribute to thyronamine biosynthesis?

Autor: Ulrich Schweizer, Mariarita Bertoldi, Georg F. Hoffmann, Thomas Opladen, Susanne Piehl, Kostja Renko, Jeannette Klein, Thomas S. Scanlan, Carolin S. Hoefig, Oliver Blankenstein, Josef Köhrle

Publikováno v: Molecular and Cellular Endocrinology. 349:195-201

Thyronamines (TAM), recently described endogenous signaling molecules, exert metabolic and pharmacological actions partly opposing those of the thyromimetic hormone T(3). TAM biosynthesis from thyroid hormone (TH) precursors requires decarboxylation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be515e6289288a571d35407106cff2c
https://doi.org/10.1016/j.mce.2011.10.024

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Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

Autor: Yoon S. Shin, Peter Schadewaldt, Eberhard Mönch, Julia B. Hennermann, Jeannette Klein, Barbara Vetter

Publikováno v: Journal of Inherited Metabolic Disease. 34:399-407

Galactokinase deficiency (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral cataract. Highest incidence of GALK-D is found

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958543f7ce2f7dd0985ac3c807222bad
https://doi.org/10.1007/s10545-010-9270-8

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Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany

Autor: Stephan Lobitz, Oliver Blankenstein, Annemarie Brose, Claudia Frömmel, Jeannette Klein

Publikováno v: European Journal of Human Genetics. 22:1051-1053

Sickle cell disease (SCD) does not occur in the indigenous German population. However, with the increasing numbers of immigrants its prevalence is steadily rising. Nevertheless, robust epidemiological data is not available for Germany and, consequent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ebbe74c98f08cdb173dc2b6e6e086c
https://doi.org/10.1038/ejhg.2013.286

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Electron paramagnetic resonance investigations of -Al2O3powders doped with Fe3 ions: experiments and simulations

Autor: Marianne Nofz, Jeannette Klein, Reinhard Stösser, Gilles Silly, Gudrun Scholz, Jean-Yves Buzaré

Publikováno v: Journal of Physics: Condensed Matter. 14:10331-10348

Electron paramagnetic resonance (EPR) of Fe3+ ions in Al2O3 is studied in powder samples prepared by different routes and/or modified by thermal or mechanical treatments, with different doping levels and grain sizes. The measurements are performed in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e117b87105a30dbad926bd4b403ad74
https://doi.org/10.1088/0953-8984/14/43/329

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Local structural orders in nanostructured Al2O3prepared by high-energy ball milling

Autor: Jean-Yves Buzaré, B Ziemer, Reinhard Stösser, Gudrun Scholz, Jeannette Klein, Y Laligant, Gilles Silly

Publikováno v: Journal of Physics: Condensed Matter. 14:2101-2117

Nanostructured Al2O3 powders were prepared by high-energy ball milling of corundum. Both the solid state nuclear magnetic resonance spectra of the Al3+ ions and the solid state electron paramagnetic resonance spectra of incorporated Fe3+ ions are gov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::129185d6515f251a434c3304a7ddc3f9
https://doi.org/10.1088/0953-8984/14/8/335

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