Newborn Screening in Japan

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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; phenylketonuria; newborn screening; long-term outcome; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation; congenital hypothyroidism; newborn screening; Japan; re-evaluations; prevalence; newborn screening; 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; newborn screening; neonatal screening; homocystinuria; methylmalonic acidemia; disorders of cobalamin metabolism; hypomethioninemia; isomer; stable-isotope dilution; derivatization; homocystinuria; cobalamin; biotin; maternal 3-methylcronylglycinuria; argininosuccinic acid; spinal muscular atrophy; SMN1; deletion; incidence; newborn screening; peroxisomal disorders; adrenoleukodystrophy; newborn screening; very-long-chain fatty acids; plasmalogen; phytanic acid; presymptomatic diagnosis; ABCD1; whole-exome sequencing; dried blood spot; neonatal screening; newborn screening; galactosemia; GALM; GALM deficiency; glycogen storage disease type 1a; dried blood spot; allele-specific PCR; mCOP-PCR; melting curve; n/a