Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.

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Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

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2014年论文

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2014年论文

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Newborn screening for dihydrol ...... itrulline as a useful analyte.

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Newborn screening for dihydrol ...... itrulline as a useful analyte.

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Newborn screening for dihydrol ...... itrulline as a useful analyte.

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P1476

Newborn screening for dihydrol ...... itrulline as a useful analyte.

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P2093

Andrea H Seeley

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Ayesha Ahmad

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Eleanor Stanley

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Mary Seeterlin

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Shane C Quinonez

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P2860

Newborn screening: toward a uniform screening panel and system--executive summary

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Newborn screening may fail to identify intermediate forms of maple syrup urine disease.

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

P304

345-349

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P31

scholarly article

case report

P356

10.1016/J.YMGMR.2014.07.007

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P478

http://www.w3.org/2001/XMLSchema#string

P577

2014-08-15T00:00:00Z

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P5875

264863749

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P698

27896107

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P932

5121342

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