Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway. Moreover, homocystinuria from cystathionine β-synthase deficiency is...

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Publicado en:Int J Neonatal Screen
Main Authors: Kagawa, Reiko, Tajima, Go, Maeda, Takako, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Nishimura, Yutaka, Yuasa, Miori, Shigematsu, Yosuke, Tanaka, Hiromi, Fujihara, Saki, Yoshii, Chiyoko, Okada, Satoshi
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293178/
https://ncbi.nlm.nih.gov/pubmed/34287232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7030039
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