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Journal of Inherited Metabolic Disease
Metadata
Title
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
Authors
B. Fowler
A. Burlina
V. Kožich
C. Vianey-Saban
Publication date
01-02-2009
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 1/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-008-9968-z

Other articles of this Issue 1/2009

Journal of Inherited Metabolic Disease 1/2009 Go to the issue

Original Article

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study

BH4 and PKU

What we know that could influence future treatment of phenylketonuria

BH4 and PKU

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

BH4 and PKU

Tetrahydrobiopterin in intestinal lumen: Its absorption and secretion in the small intestine and the elimination in the large intestine

BH4 and PKU

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

BH4 and PKU

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria

ACC 2024 Congress Coverage

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Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

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