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Quoted phrase not found in phrase index: "Methylmalonic aciduria and homocystinuria type cblD"
Page 1
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
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 …
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