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aciduria相关文献:
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.
Shakerdi LA, Gillman B, Corcoran E, McNulty J, Treacy EP.
Metabolites. 2023 Apr 4;13(4):518. doi: 10.3390/metabo13040518.
PMID:37110176
The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.
Hu S, Kong X.
Taiwan J Obstet Gynecol. 2022 Mar;61(2):290-298. doi: 10.1016/j.tjog.2022.02.017.
PMID:35361390
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J.
J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5.
PMID:30723942
3-Methylglutaconic aciduria type VIII in an Indian neonate.
Sreedhara MS, Balakrishnan U, Amboiram P, Chandrasekeran A, Abiramalatha T, Mohammad SJS, Rajendran UD, Jeyaraman TK.
Birth Defects Res. 2020 Aug;112(14):1093-1097. doi: 10.1002/bdr2.1717. Epub 2020 May 22.
PMID:32445293
Inborn errors of metabolism associated with 3-methylglutaconic aciduria.
Jones DE, Klacking E, Ryan RO.
Clin Chim Acta. 2021 Nov;522:96-104. doi: 10.1016/j.cca.2021.08.016. Epub 2021 Aug 16.
PMID:34411555
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S.
Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.
PMID:36999056
An expanding spectrum of complications in isolated methylmalonic aciduria.
Forny P, Grunewald S.
J Mother Child. 2020 Nov 10;24(2):9-13. doi: 10.34763/jmotherandchild.20202402si.2014.000003.
PMID:33554499
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V.
Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422.
PMID:35457240
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR.
Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19.
PMID:34665389
Methylmalonic acidemia: Current status and research priorities.
Zhou X, Cui Y, Han J.
Intractable Rare Dis Res. 2018 May;7(2):73-78. doi: 10.5582/irdr.2018.01026.
PMID:29862147
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