Načítá se...

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...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Int J Neonatal Screen
Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI 2021
Témata:	Article
On-line přístup:	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
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo otaguje tento záznam!

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

Podobné jednotky