000			01727nam a2200133Ia 4500
008			220616s9999||||xx |||||||||||||| ||und||
020			_a9783040000000
245		0	_aNewborn Screening in Japan
546			_aEnglish[eng]
650			_ahomocystinuria||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
700			_aTajima, Toshihiro||Yamaguchi, Seiji
856			_uhttps://mdpi.com/books/pdfview/book/4869
942			_cEB
999			_c21212 _d21212