Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

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P2860

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

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2016 nî lūn-bûn

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Neonatal screening for profoun ...... nsequences and considerations.

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Neonatal screening for profoun ...... nsequences and considerations.

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Neonatal screening for profoun ...... nsequences and considerations.

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Neonatal screening for profoun ...... onsequences and considerations

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Evelien A Kemper

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Francjan J van Spronsen

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Frans W Verheijen

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Michelle E Kruijshaar

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Monique Williams

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Rachel C Wiltink

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Rick van Minkelen

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Willem Onkenhout

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P2860

The effect of neonatal jaundice on biotinidase activity

Mutations in BTD causing biotinidase deficiency

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

Partial biotinidase deficiency: clinical and biochemical features

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

The Biotinidase Gene Variants Registry: A Paradigm Public Database

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

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ejhg.2016.65

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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

about

P2860

P2860

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

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