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Quoted phrase not found in phrase index: "Methylmalonic aciduria and homocystinuria type cblD"
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Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
Hwang N, Jang JH, Cho EH, Choi R, Choi SJ, Park HD. Hwang N, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1838. doi: 10.1002/mgg3.1838. Epub 2021 Oct 16. Mol Genet Genomic Med. 2021. PMID: 34655177 Free PMC article.
Prenatal diagnosis of combined methylmalonic acidemia with homocystinuria is crucial for high-risk couples since the disorder can be life-threatening for offspring. ...The mother delivered a healthy baby and the neonate did not show any symptoms or signs of c …
Prenatal diagnosis of combined methylmalonic acidemia with homocystinuria is crucial for high-risk couples since the di …
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR. Haarmann A, et al. Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17. Mol Genet Metab. 2013. PMID: 24095221 Free article.
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-respons …
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under appare …