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241 related items for PubMed ID: 16451139
1. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A. Clin Genet; 2006 Jan; 69(1):72-6. PubMed ID: 16451139 [Abstract] [Full Text] [Related]
9. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):485-9. PubMed ID: 19806564 [Abstract] [Full Text] [Related]
10. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391 [Abstract] [Full Text] [Related]
13. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B. Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192 [Abstract] [Full Text] [Related]
14. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Shigematsu Y, Hata I, Nakai A, Kikawa Y, Sudo M, Tanaka Y, Yamaguchi S, Jakobs C. Pediatr Res; 1996 Apr; 39(4 Pt 1):680-4. PubMed ID: 8848345 [Abstract] [Full Text] [Related]
18. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. Zong Y, Liu N, Zhao Z, Kong X. BMC Med Genet; 2015 Jul 07; 16():48. PubMed ID: 26149271 [Abstract] [Full Text] [Related]
19. Gestational age-related reference values for amniotic fluid organic acids. Ottolenghi C, Abermil N, Lescoat A, Aupetit J, Beaugendre O, Morichon-Delvallez N, Ricquier D, Chadefaux-Vekemans B, Rabier D. Prenat Diagn; 2010 Jan 07; 30(1):43-8. PubMed ID: 19950217 [Abstract] [Full Text] [Related]