Results 91 to 100 of about 12,857 (206)

Targeting the Subthalamic Nucleus in MEGDEL Syndrome: A Case Report of a Clinically Effective Intervention for Debilitating Lingual Dyskinesia and Dystonia

Movement Disorders Clinical Practice, EarlyView.
Philipp Köberle, Florian Lange, Ghadir Abbas, Philipp Capetian, Marius Vogt, Patrick Fricke, Cordula Matthies, Jens Volkmann, Martin Reich, Thomas Musacchio   +9 more
wiley   +1 more source

Clinical practice: The management of hyperammonemia [PDF]

, 2018
Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can
Häberle, Johannes
core  

Continuous renal replacement therapy for severe transient hyperammonemia in a preterm infant weighing 1120 g: A case report

Journal of International Medical Research
Transient hyperammonemia of the newborn is a rare form of hyperammonemia with an unclear, likely nongenetic etiology, primarily affecting larger preterm infants.
Jinglin Xu, Jiahuai Liu, Hongyuan Yang, Weifeng Zhang, Dongmei Chen, Zhiyong Liu   +5 more
doaj   +1 more source

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia [PDF]

, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients.
Katherine Taylor, Wild, Rebecca D, Ganetzky, Marc, Yudkoff, Lynne, Ierardi-Curto   +3 more
openaire   +2 more sources

Severe hyperammonemia from intense skeletal muscle activity

, 2019
Rationale: Adult hyperammonemia is most often the result of hepatic dysfunction. Hyperammonemia in the setting of normal hepatic function is a much less common phenomenon and has usually been associated with medications and certain disease states.
Jasuja, Haneesh, Taneja, Vikas, Haneesh Jasuja, Vikas Taneja   +3 more
core   +1 more source

Hyperammonemia in Urinary Tract Infections

, 2017
【Objectives】 The present study investigated the incidence of hyperammonemia in urinary tract infections and explored the utility of urinary obstruction relief and antimicrobial administration to improve hyperammonemia.
Kitao, Akihito, ヤハタ, シンスケ, 岡山, 雅信, オカヤマ, マサノブ, 八幡, 晋輔, Kenzaka, Tsuneaki, Kosami, Koki, Fukui, Miho, ケンザカ, ツネアキ, Kato, Ken, 見坂, 恒明, Okayama, Masanobu, Minami, Kensuke, Yahata, Shinsuke   +13 more
core   +1 more source

Levocarnitine for valproate-induced hyperammonemia in the psychiatric setting: A case series and literature review

, 2018
Introduction: Hyperammonemia is a potential adverse effect of valproic acid (VPA) therapy, which is often asymptomatic but can lead to severe, life-threatening encephalopathy.
Lauren M. Brown, Troy A. Moore, Nicole Cupples   +2 more
core   +1 more source

Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation.

, 1997
BACKGROUND: The cause of severe acquired hyperammonemia, an uncommon but often fatal complication of organ transplantation and chemotherapy for cancer, is obscure.
McCann, M T, Berry, G T, Rajagopal, B S, Lichtenstein, G R, Tuchman, M, Bavaria, Joseph E, MD, Furth, E E, Gibson, J B, Kaplan, P B   +8 more
core   +1 more source

Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection : a systematic review

, 2017
Background: Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia ...
Caterina M. Clericetti, Gregorio P. Milani, Giacomo D. Simonetti, Mario G. Bianchetti, O. Giannini, Sebastiano A. G. Lava, G. D. Simonetti, C. M. Clericetti, Olivier Giannini, G. P. Milani, S. A. G. Lava, M. G. Bianchetti, Lava SAG, Milani GP, Giannini O, Simonetti GD, Bianchetti MG, Clericetti CM   +17 more
core   +1 more source

Case Report A Case of Hyperammonemia Associated with High Dihydropyrimidine Dehydrogenase Activity

, 2020
Over the past decades, 5-Fluorouracil (5-FU) has been widely used to treat several types of carcinoma, including esophageal squamous cell carcinoma. In addition to its common side effects, including diarrhea, mucositis, neutropenia, and anemia, 5-FU ...
Kenji Ikemura, Yoshiki Yamashita, Naoyuki Katayama, Keiki Nagaharu, Mikiya Ishihara, Toshiro Mizuno, Hiroyasu Oda, Satoshi Tamaru, Yumiko Sugawara   +8 more
core