Newborn Screening in Japan

“Newborn Screening in Japan—2021” is a topical collection of the International Journal of Neonatal Screening. Japan's newborn mass screening (NBS) was started in 1977 at the national level as a national project. Subsequently, screening was conducted for six diseases. From 2014 a tandem mass analyzer...

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Bibliografiske detaljer
Format:	Online
Sprog:	engelsk
Udgivet:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Fag:	homocystinuria cystathionine β-synthase deficiency newborn screening long-term outcome social outcome vitamin B6 methionine phenylketonuria hyperphenylalaninemia phenylalanine hydroxylase genetic analysis neonatal screening genotype–phenotype correlation adult patients Japanese intellectual disability psychiatric disability treatment discontinuation congenital hypothyroidism Japan re-evaluations prevalence lowering of thyroid stimulating hormone screening cutoffs thyroid dysgenesis thyroid dyshormonogenesis transient congenital hypothyroidism permanent congenital hypothyroidism delayed rise in TSH low birth weight propionic acidemia tandem mass spectrometry propionylcarnitine cardiomyopathy QT prolongation congenital adrenal hyperplasia 21-hydroxylase deficiency methylmalonic acidemia disorders of cobalamin metabolism hypomethioninemia isomer stable-isotope dilution derivatization cobalamin biotin maternal 3-methylcronylglycinuria argininosuccinic acid spinal muscular atrophy SMN1 deletion incidence peroxisomal disorders adrenoleukodystrophy very-long-chain fatty acids plasmalogen phytanic acid presymptomatic diagnosis ABCD1 whole-exome sequencing dried blood spot galactosemia GALM GALM deficiency glycogen storage disease type 1a allele-specific PCR mCOP-PCR melting curve n/a thema EDItEUR::M Medicine and Nursing
Online adgang:	ONIX_20220224_9783036529257_73
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Newborn Screening in Japan

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