Buchumschlag

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...

Ausführliche Beschreibung

Gespeichert in:
Format: Online
Sprache:Englisch
Veröffentlicht: MDPI - Multidisciplinary Digital Publishing Institute 2022
Schlagworte:
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-Zugang:ONIX_20220224_9783036529257_73
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