Newborn Screening in Japan (Record no. 21212)

MARC details
000 -LEADER
fixed length control field 01727nam a2200133Ia 4500
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 220616s9999||||xx |||||||||||||| ||und||
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9783040000000
245 #0 - TITLE STATEMENT
Title Newborn Screening in Japan
546 ## - LANGUAGE NOTE
Language note English[eng]
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 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
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Tajima, Toshihiro||Yamaguchi, Seiji
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://mdpi.com/books/pdfview/book/4869">https://mdpi.com/books/pdfview/book/4869</a>
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type E-Books
Holdings
Withdrawn status Lost status Damaged status Not for loan Home library Current library Date acquired Total Checkouts Date last seen Price effective from Koha item type
        Kerala University of Digital Sciences, Innovation and Technology Knowledge Centre Kerala University of Digital Sciences, Innovation and Technology Knowledge Centre 16/06/2022   16/06/2022 16/06/2022 E-Books