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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
2001 1
2003 1
2007 1
2009 2
2012 2
2017 2
2019 2
2020 2
2022 1
2023 2
2024 4

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20 results

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Page 1
Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M. Komatsu M, et al. Nutrients. 2023 May 12;15(10):2284. doi: 10.3390/nu15102284. Nutrients. 2023. PMID: 37242166 Free PMC article. Review.
Carbohydrate overload and alcohol consumption may trigger the sudden onset of CTLN2, inducing hyperammonemia and consciousness disturbance. Well-compensated asymptomatic CD patients are sometimes diagnosed as having non-obese (lean) non-alcoholic fatty liver disease …
Carbohydrate overload and alcohol consumption may trigger the sudden onset of CTLN2, inducing hyperammonemia and consciousness distur …
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
Kenneson A, Singh RH. Kenneson A, et al. Orphanet J Rare Dis. 2020 Oct 9;15(1):279. doi: 10.1186/s13023-020-01560-z. Orphanet J Rare Dis. 2020. PMID: 33036647 Free PMC article. Review.
BACKGROUND: N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since its recognition in 1981, NAGS def …
BACKGROUND: N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycl …
Disorders of glutamate metabolism.
Kelly A, Stanley CA. Kelly A, et al. Ment Retard Dev Disabil Res Rev. 2001;7(4):287-95. doi: 10.1002/mrdd.1040. Ment Retard Dev Disabil Res Rev. 2001. PMID: 11754524 Review.
The recent identification of a novel form of congenital hyperinsulinism associated with asymptomatic hyperammonemia assigns glutamate oxidation by glutamate dehydrogenase a more important role than previously recognized in beta-cell insulin secretion and hepatic and …
The recent identification of a novel form of congenital hyperinsulinism associated with asymptomatic hyperammonemia assigns gl …
Flapping Tremor: Unraveling Asterixis-A Narrative Review.
Rissardo JP, Muhammad S, Yatakarla V, Vora NM, Paras P, Caprara ALF. Rissardo JP, et al. Medicina (Kaunas). 2024 Feb 21;60(3):362. doi: 10.3390/medicina60030362. Medicina (Kaunas). 2024. PMID: 38541088 Free PMC article. Review.
Asterixis is not specific to any pathophysiological process, but it is more commonly reported in hepatic encephalopathy, renal and respiratory failure, cerebrovascular diseases, as well as associated with drugs that could potentially lead to hyperammonemia, such as valproi …
Asterixis is not specific to any pathophysiological process, but it is more commonly reported in hepatic encephalopathy, renal and respirato …
Challenges in diagnosing and managing adult patients with urea cycle disorders.
Stepien KM, Geberhiwot T, Hendriksz CJ, Treacy EP. Stepien KM, et al. J Inherit Metab Dis. 2019 Nov;42(6):1136-1146. doi: 10.1002/jimd.12096. Epub 2019 May 8. J Inherit Metab Dis. 2019. PMID: 30932189 Review.
The presentation of these disorders ranges from life-threatening intoxication in the neonate to asymptomatic status in adults. Late-onset UCDs can present for the first time in adulthood and may mimic other causes of acute confusion or psychiatric diseases, and are often a …
The presentation of these disorders ranges from life-threatening intoxication in the neonate to asymptomatic status in adults. Late-o …
Valproate-induced hyperammonemic encephalopathy: a brief review.
Lewis C, Deshpande A, Tesar GE, Dale R. Lewis C, et al. Curr Med Res Opin. 2012 Jun;28(6):1039-42. doi: 10.1185/03007995.2012.694362. Epub 2012 Jun 6. Curr Med Res Opin. 2012. PMID: 22587482 Review.
Since VPA frequently causes a modest rise in plasma ammonia levels which is asymptomatic, it is important to recognize the symptoms of VHE promptly and to correlate them with the plasma ammonia levels. ...
Since VPA frequently causes a modest rise in plasma ammonia levels which is asymptomatic, it is important to recognize the symptoms o …
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B. Crefcoeur LL, et al. J Inherit Metab Dis. 2022 May;45(3):386-405. doi: 10.1002/jimd.12475. Epub 2022 Feb 3. J Inherit Metab Dis. 2022. PMID: 34997761 Free PMC article. Review.
Most newborns and mothers of newborns detected through NBS remain asymptomatic. However, though rarely, severe complications do occur in both groups....
Most newborns and mothers of newborns detected through NBS remain asymptomatic. However, though rarely, severe complications do occur …
Carnitine deficiency in epilepsy: Risk factors and treatment.
Coulter DL. Coulter DL. J Child Neurol. 1995 Nov;10 Suppl 2:S32-9. J Child Neurol. 1995. PMID: 8576567 Review.
Carnitine treatment does not always prevent the emergence of serious hepatotoxicity, but it does alleviate valproate-induced hyperammonemia. These studies suggest that specific risk factors for carnitine deficiency can be identified. Preliminary data suggest that carnitine …
Carnitine treatment does not always prevent the emergence of serious hepatotoxicity, but it does alleviate valproate-induced hyperammonem …
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Diez-Fernandez C, Hertig D, Loup M, Diserens G, Henry H, Vermathen P, Nuoffer JM, Häberle J, Braissant O. Diez-Fernandez C, et al. J Inherit Metab Dis. 2019 Nov;42(6):1077-1087. doi: 10.1002/jimd.12090. Epub 2019 Apr 14. J Inherit Metab Dis. 2019. PMID: 30907007 Free article. Review.
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker argininosuccinic a …
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotype …
[The decreased level of plasma carnitine in patients with epilepsy].
Belousova ED. Belousova ED. Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(6):106-110. doi: 10.17116/jnevro201711761106-110. Zh Nevrol Psikhiatr Im S S Korsakova. 2017. PMID: 28745680 Review. Russian.
Carnitine deficiency can have severe consequences; but most epileptic patients suffering from it are asymptomatic. Although carnitine deficiency is not uncommon among patients receiving AEDs, it seems not necessary to routinely monitor carnitine levels in epileptic ambulat …
Carnitine deficiency can have severe consequences; but most epileptic patients suffering from it are asymptomatic. Although carnitine …
20 results