(Q43010124)

12 November 2017

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan (English)

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12 November 2017

5

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12 November 2017

Dau-Ming Niu

1

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12 November 2017

Yin-Hsiu Chien

2

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12 November 2017

Chuan-Chi Chiang

3

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12 November 2017

Hui-Chen Ho

4

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12 November 2017

Shu-Min Kao

6

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12 November 2017

Szu-Hui Chiang

7

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12 November 2017

Chuan-Hong Kao

8

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12 November 2017

Tze-Tze Liu

9

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12 November 2017

Hung Chiang

10

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12 November 2017

Kwang-Jen Hsiao

11

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12 November 2017

22 June 2010

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Journal of Inherited Metabolic Disease

12 November 2017

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12 November 2017

33

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12 November 2017

Suppl 2

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12 November 2017

S295-305

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9129-z

12 November 2017

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cites work

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

1 reference

12 December 2020

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

1 reference

12 December 2020

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration

1 reference

12 December 2020

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

1 reference

12 December 2020

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

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12 December 2020

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005

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12 December 2020

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards

1 reference

12 December 2020

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

12 December 2020

Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients

1 reference

12 December 2020

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

1 reference

12 December 2020

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

1 reference

12 December 2020

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1 reference

12 December 2020

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

1 reference

12 December 2020

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

1 reference

12 December 2020

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

1 reference

12 December 2020

Brain damage by mild metabolic derangements in methylmalonic acidemia.

1 reference

12 December 2020

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

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12 December 2020

Growth hormone therapy in neonatal patients with methylmalonic acidemia

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12 December 2020

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese

1 reference

12 December 2020

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests

1 reference

12 December 2020

Corneal lesion as the initial manifestation of tyrosinemia type II.

1 reference

12 December 2020

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

1 reference

12 December 2020

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

1 reference

12 December 2020

Heterogeneity of Taiwan's indigenous population: possible relation to prehistoric Mongoloid dispersals

1 reference

12 December 2020

Newborn screening for homocystinuria: Irish and world experience

1 reference

12 December 2020

Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening

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12 December 2020

Newborn screening fact sheets

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12 December 2020

10.1007/S10545-010-9129-Z

Identifiers

DOI

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Dimensions Publication ID

12 November 2017

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