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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Int J Neonatal Screen
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: MDPI 2021
विषय:
Article
ऑनलाइन पहुंच: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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