Results 61 to 70 of about 15,555 (178)
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Cytosolic phosphoenolpyruvate carboxykinase (PEPCK‐C) deficiency is a rare autosomal recessive gluconeogenesis disorder caused by variants in the PCK1 gene. Clinically, PEPCK‐C deficiency is characterized by recurrent episodes of fasting‐induced hypoglycemia, liver dysfunction, and seizures, with the first hypoglycemic episode typically ...
Lauma Vasiļevska +6 more
wiley +1 more source
Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells. [PDF]
, 2008 Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Braissant, O., Cagnon, L.
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Multiple myeloma with hyperammonemia.
Nihon Naika Gakkai Zasshi, 2000 症例は71歳男性. 1998年7月頃より食欲低下,全身倦怠感が出現し,当院受診.軽度の脱水を認め入院となった.入院後,突然昏睡状態となり,血中アンモニア294ug/dlと高アンモニア血症を認めた.入院時貧血と軽度の腰痛があったことより,骨髄腫を疑い骨髄穿刺を施行し,異型性のある形質細胞の増加とIgG-λ型M蛋白を認め骨髄腫と診断した.原因不明の高アンモニア血症の鑑別として貴重な症例と考えられた.
A, Horie +4 more
openaire +3 more sources
Hepatic encephalopathy: a critical current review. [PDF]
, 2017 Hepatic encephalopathy (HE) is a serious neuropsychiatric complication of cirrhosis and/or porto-systemic shunting. The clinical symptoms are widely variable, extending from subtle impairment in mental state to coma.
Arias, N +3 more
core +2 more sources
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
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Ammonia toxicity to the brain [PDF]
, 2018 Hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle defects. The brain is much more susceptible to the deleterious effects of ammonium in childhood than in adulthood.
Braissant, Olivier +2 more
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Brain edema in acute liver failure and chronic liver disease: Similarities and differences [PDF]
, 2013 Hepatic encephalopathy (HE) is a complex neuropsychiatric syndrome that typically develops as a result of acute liver failure or chronic liver disease. Brain edema is a common feature associated with HE. In acute liver failure, brain edema contributes to
Bosoi, Cristina R., Rose, Christopher
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Astrocyte glutamine synthetase : pivotal in health and disease [PDF]
, 2013 The multifunctional properties of astrocytes signify their importance in brain physiology and neurological function. In addition to defining the brain architecture, astrocytes are primary elements of brain ion, pH and neurotransmitter homoeostasis.
Parpura, Vladimir +2 more
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Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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ELECTROTHERAPY IN THE TREATMENT OF PATIENTS AFFECTED BY RABIES: EXPERIMENTS CONDUCTED AT THE “MAGGIORE” HOSPITAL OF MILAN IN 1865 [PDF]
, 2016 During the nineteenth century, the scientific context of rabies treatment was weak due to the lack of the literature on specific nosology of the rabies disease, and unspecific and ineffective therapy approaches.
Gazzaniga, Valentina +2 more
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