Zobrazeno 1 - 10
of 954
pro vyhledávání: '"B. Jaeger"'
Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study
Autor:
B. Jaeger, E. Hoytema van Konijnenburg, M. A. Groenveld, M. Langeveld, N. I. Wolf, A. M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-5 (2024)
Abstract Background Riboflavin transporter deficiency (RTD) is an inborn error of riboflavin transport causing progressive neurological symptoms if left untreated. While infants with symptomatic RTD rapidly deteriorate, presentation later in childhoo
Externí odkaz:
https://doaj.org/article/989874e748504dd489133472332f54b2
Autor:
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 60-63 (2016)
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative.
Externí odkaz:
https://doaj.org/article/4de213973d8d4ae6aefa8a2c5c8b9f8f
Autor:
Alois Lang, Axel Muendlein, Heinz Drexel, Lukas Sprenger, Andreas Leiherer, Michele Atzl, Thomas Winder, Peter Fraunberger, Eva-Maria Brandtner, Kathrin Geiger, Miriam Klausberger, Mark Duerkop, Beatrix Mutschlechner, Andreas Volgger, Magdalena Benda, Luciano Severgnini, Johannes B Jaeger
Publikováno v:
BMJ Open, Vol 12, Iss 5 (2022)
Objectives Austria, and particularly its westernmost federal state Vorarlberg, developed an extremely high incidence rate during the COVID-19 pandemic. Healthcare workers (HCWs) worldwide are known to have an increased risk of contracting the disease
Externí odkaz:
https://doaj.org/article/4bbb2021746d4aa5be726a3fd85443e8
Autor:
Marianna de B. Jaeger, Camila S. Miná, Sofia Alves, Gabriela J. Schuh, Maria C. Wender, Gisele G. Manfro
Publikováno v:
Brazilian Journal of Psychiatry, Vol 43, Iss 3, Pp 277-284 (2020)
Objective: Vasomotor symptoms affect 60-80% of women during the menopausal transition. Anxiety, depression, and anxiety sensitivity can have an important role in the distressful experience of vasomotor symptoms. Our aim was to evaluate the prevalence
Externí odkaz:
https://doaj.org/article/389805fd964542bab761a080bf74d29e
Autor:
Sydney A. Caputo, Madeline Hawkins, Ellen B. Jaeger, William Fleming, Crystal Casado, Charlotte Manogue, Minqi Huang, Alex Lieberman, Malcolm Light, Isabelle P. Sussman, Patrick Miller, Pedro C. Barata, Brian E. Lewis, Jodi Lyn Layton, Elisa M. Ledet, Emmanuel S. Antonarakis, Oliver Sartor
Publikováno v:
The Prostate. 83:879-885
Autor:
Albert Jang, Ellen B. Jaeger, Elisa M. Ledet, John Xie, Brian E. Lewis, Jodi L. Layton, Oliver Sartor, Pedro C. Barata, Christopher R. Trevino
Publikováno v:
Clinical Genitourinary Cancer. 21:e9-e18
Prostate cancer (PC) rarely metastasizes to the central nervous system (CNS). In this retrospective single-institution study at a tertiary cancer center, we aimed to evaluate the clinical and genetic characteristics of advanced PC patients with CNS m
Autor:
M, Buhck, J, Achenbach, B, Wiese, A T, Tran, M, Stuhrmann, B, Jaeger, M, Bernateck, N, Schneider, M, Karst
Publikováno v:
Journal of Affective Disorders. 308:466-472
Somatoform disorders and functional somatic syndromes (FSS) with symptoms that are not sufficiently explained by physical or technical examination are among the most challenging underlying causes. Many different somatoform disorders and FSS have over
Autor:
Albert Jang, Sree M. Lanka, Minqi Huang, Crystal V. Casado, Sydney A. Caputo, Patrick L. Sweeney, Kanika Gupta, Olivia Pocha, Nicholas Habibian, Madeline E. Hawkins, Alexandra D. Lieberman, Jennifer Schwartz, Ellen B. Jaeger, Patrick J. Miller, Jodi L. Layton, Pedro C. Barata, Brian E. Lewis, Elisa M. Ledet, Oliver Sartor
Publikováno v:
The Prostate.
Publikováno v:
Cognitive Science. 47
Autor:
Paul S. Meltzer, Elaine S. Jaffe, Michael R. Emmert-Buck, Jian-Bing Fan, Marina Bibikova, William I. Smith, Robert Cornelison, Mark Raffeld, Stefania Pittaluga, Jason Hipp, Yidong Chen, Erich B. Jaeger, M. Scott Killian, Robert L. Walker, Sean Davis, Sven Bilke, J. Keith Killian
Supplementary Figure 1 from Large-Scale Profiling of Archival Lymph Nodes Reveals Pervasive Remodeling of the Follicular Lymphoma Methylome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d225d5bc8794508f3266cdb6946cc3c
https://doi.org/10.1158/0008-5472.22381410.v1
https://doi.org/10.1158/0008-5472.22381410.v1