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...
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| Format: | Online |
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| Jezik: | angleščina |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Online dostop: | ONIX_20220224_9783036529257_73 |
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| _version_ | 1869524148471988224 |
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| collection | Directory of Open Access Books |
| description | “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 (tandem mass) was introduced nationwide, and in addition to the conventional amino acid metabolism disorders urea cycle disorders, organic acid metabolism disorders and fatty acid metabolism disorders have joined the target diseases. Screening is currently conducted for 20 diseases. The acceptance rate of mass screening in Japan is 100%, and top-level screening measures available in the world, such as a quality control system and an inspection system, are carried out. This book is an overview of the history, current status and future of NBS in Japan. I hope that readers are interested in this book. |
| format | Online |
| id | doab-20.500.12854ir-78775 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-787752024-03-31T13:10:32Z Newborn Screening in Japan Tajima, Toshihiro Yamaguchi, Seiji 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 “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 (tandem mass) was introduced nationwide, and in addition to the conventional amino acid metabolism disorders urea cycle disorders, organic acid metabolism disorders and fatty acid metabolism disorders have joined the target diseases. Screening is currently conducted for 20 diseases. The acceptance rate of mass screening in Japan is 100%, and top-level screening measures available in the world, such as a quality control system and an inspection system, are carried out. This book is an overview of the history, current status and future of NBS in Japan. I hope that readers are interested in this book. 2022-02-24T10:36:03Z 2022-02-24T10:36:03Z 2022 book ONIX_20220224_9783036529257_73 9783036529257 9783036529240 https://directory.doabooks.org/handle/20.500.12854/78775 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/4869 https://mdpi.com/books/pdfview/book/4869 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-2925-7 10.3390/books978-3-0365-2925-7 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036529257 9783036529240 116 Basel open access |
| spellingShingle | 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 Newborn Screening in Japan |
| title | Newborn Screening in Japan |
| title_full | Newborn Screening in Japan |
| title_fullStr | Newborn Screening in Japan |
| title_full_unstemmed | Newborn Screening in Japan |
| title_short | Newborn Screening in Japan |
| title_sort | newborn screening in japan |
| topic | 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 |
| topic_facet | 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 |
| url | ONIX_20220224_9783036529257_73 |