Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Susette Unger"'
Autor:
Max Braune, Moritz Metelmann, Jonathan de Fallois, Christian Pfrepper, Alonso Barrantes-Freer, Grit Gesine Ruth Hiller, Susette Unger, Evelyn Seelow, Jan Halbritter, Johann Otto Pelz
Publikováno v:
Neurological Research and Practice, Vol 6, Iss 1, Pp 1-11 (2024)
Abstract Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an ultra-rare, autosomal-dominant small vessel disease caused by loss-of-function variants in the gene TREX1. Recently, elevated serum
Externí odkaz:
https://doaj.org/article/bae7f95c918f4696baccd5ec50aa0d89
Publikováno v:
Wiener Medizinische Wochenschrift. 159:507-510
We report on a 21-year-old woman with classic phenylketonuria, who presented at our outpatient clinic at week 14 of pregnancy. Despite intensive preconceptional counselling about the risk of raised Phenylalanine (Phe) levels for the offspring and nut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b62ce15cfd935715eb7a366651acdfe5
https://doi.org/10.1007/s10354-009-0695-3
https://doi.org/10.1007/s10354-009-0695-3
Autor:
Hans-Egbert Schroeder, Susette Unger, Juergen Graessler, Anne-Kathrin Tausche, Anett Graessler, Eberhard Kuhlisch, Steffi Kopprasch
Publikováno v:
Arthritis & Rheumatism. 54:292-300
Objective Human urate transporter 1 (hURAT1) is a member of the organic anion transporter family (SLC22A12) that mainly regulates tubular urate reabsorption. Loss-of-function mutations result in idiopathic hypouricemia. The present case–control stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c863d9d08ec5e8c943b2aac3a43c5320
https://doi.org/10.1002/art.21499
https://doi.org/10.1002/art.21499
Autor:
Juergen Graessler, Anett Graessler, Susette Unger, Steffi Kopprasch, Anne‐Kathrin Tausche, Eberhard Kuhlisch, Hans‐Egbert Schroeder
Publikováno v:
Arthritis & Rheumatism; Jan2006, Vol. 54 Issue 1, p292-300, 9p