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methylmalonic aciduria相关文献:
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
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C.
J Inherit Metab Dis. 2023 May;46(3):466-481. doi: 10.1002/jimd.12613. Epub 2023 Apr 24.
PMID:37067856
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP.
2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301409
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.
El-Hattab AW, Scaglia F.
2009 May 26 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301762
Monitoring Methylmalonic Aciduria by NMR Urinomics.
Nicolescu A, Blanita D, Boiciuc C, Hlistun V, Cristea M, Rotaru D, Pinzari L, Oglinda A, Stamati A, Tarcomnicu I, Tutulan-Cunita A, Stambouli D, Gladun S, Revenco N, Uşurelu N, Deleanu C.
Molecules. 2020 Nov 14;25(22):5312. doi: 10.3390/molecules25225312.
PMID:33202577
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP.
J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617.
PMID:37078237
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR.
J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9.
PMID:33595124
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.
Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8.
PMID:25205257
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C.
Orphanet J Rare Dis. 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3.
PMID:38245797
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