(Q43075022)

13 November 2017

title

Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria (English)

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13 November 2017

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Yosuke Shigematsu

1

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13 November 2017

Ikue Hata

series ordinal

2

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13 November 2017

Go Tajima

series ordinal

3

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13 November 2017

publication date

4 May 2010

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Journal of Inherited Metabolic Disease

13 November 2017

published in

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13 November 2017

volume

33

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13 November 2017

issue

Suppl 2

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13 November 2017

page(s)

S283-8

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Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

13 November 2017

cites work

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12 December 2020

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

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12 December 2020

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

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12 December 2020

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

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12 December 2020

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

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12 December 2020

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

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12 December 2020

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening

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12 December 2020

Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening

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12 December 2020

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

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12 December 2020

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

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12 December 2020

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

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12 December 2020

Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography

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12 December 2020

Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease

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12 December 2020

Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia

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12 December 2020

10.1007/S10545-010-9111-9

Identifiers

DOI

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Dimensions Publication ID

13 November 2017

1019366466

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