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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
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
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
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S, Mei S, Liu N, Kong X.
BMC Med Genet. 2018 Aug 29;19(1):154. doi: 10.1186/s12881-018-0666-x.
PMID:30157807
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
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
Argininosuccinic aciduria: from a monogenic to a complex disorder.
Erez A.
Genet Med. 2013 Apr;15(4):251-7. doi: 10.1038/gim.2012.166. Epub 2013 Jan 10.
PMID:23306800
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
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
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