Diagnostic and management issues in patients with late-onset ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the
urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC …
urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC …
Wenn es doch das Zebra ist: Fünf seltene Erkrankungen, die ein Notaufnahmeteam kennen sollte
S Pflock, HC Mücke, R Somasundaram… - Notfall+ …, 2024 - Springer
Zusammenfassung In Deutschland sind ca. 4 Mio. Menschen von einer seltenen Erkrankung
(SE) betroffen. Obwohl einzeln betrachtet selten (Prävalenz< 1: 2000), sind SE zusammen …
(SE) betroffen. Obwohl einzeln betrachtet selten (Prävalenz< 1: 2000), sind SE zusammen …
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations
C Zhang, J Shan, J Su, G Wang, Q Huo, R Xu… - Neurology …, 2024 - neurology.org
Background and Objectives Cases and studies of neurologic symptoms in children caused
by genetic metabolic diseases have been widely reported. Ornithine transcarbamylase …
by genetic metabolic diseases have been widely reported. Ornithine transcarbamylase …
[HTML][HTML] Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery
J Lung, S Sathappan, I Sabir, R Maier - Cureus, 2022 - ncbi.nlm.nih.gov
Acute encephalopathy with an unclear etiology is a common presentation to the hospital. We
describe the case of a 50-year-old male who presented with a one-day history of slurred …
describe the case of a 50-year-old male who presented with a one-day history of slurred …