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Newborn Screening in Japan

Resumen/Descripción – provisto por la editorial

No disponible.

Palabras clave – provistas por la editorial

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

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Información

Tipo de recurso:

libros

ISBN electrónico

978-3-0365-2925-7

País de edición

Suiza