Newborn Screening in Japan 

<br/><br/><br/>English[eng] 
<br/><br/><label>ISBN: </label>9783040000000 
<br/><br/><label>Subjects--Topical Terms: </label><br/>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