Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan (Q74485297)

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11 November 2019

title

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan (English)

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11 November 2019

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Yosuke Shigematsu

1

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11 November 2019

Satoko Hirano

2

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11 November 2019

Ikue Hata

3

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11 November 2019

Yukie Tanaka

4

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11 November 2019

Masakatsu Sudo

5

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11 November 2019

Nobuo Sakura

6

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11 November 2019

Tsuyoshi Tajima

7

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11 November 2019

Seiji Yamaguchi

8

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11 November 2019

publication date

1 August 2002

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Journal of Chromatography B Analytical Technologies in the Biomedical and Life Sciences

11 November 2019

published in

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11 November 2019

volume

776

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11 November 2019

issue

1

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11 November 2019

page(s)

39-48

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Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases.

11 November 2019

cites work

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7 January 2021

Health economic analysis of the neonatal screening program in Japan

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Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

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7 January 2021

Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan

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7 January 2021

Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines

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7 January 2021

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

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High-performance liquid chromatographic determination of four kinds of biotin-containing carboxylase

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Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.

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Treatment of late-onset nonketotic hyperglycinaemia: effectiveness of imipramine and benzoate.

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7 January 2021

Application of electrospray tandem mass spectrometry to neonatal screening

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Neurologic nonmetabolic presentation of propionic acidemia

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Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

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Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

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Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

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7 January 2021

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

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7 January 2021

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

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7 January 2021

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

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Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

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7 January 2021

10.1016/S1570-0232(02)00077-6

Identifiers

DOI

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11 November 2019

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