Publications by authors named "M Blaskovics"

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Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
B Thöny, F Neuheiser, L Kierat, M Blaskovics, P H Arn

Am J Hum Genet· June 1998

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Diagnostic screening for mucopolysaccharidoses types I-VII by fluorophore-labelled carbohydrate PAGE.
T A Giudici, H Sunico, M Blaskovics

J Inherit Metab Dis· October 1996

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Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.
N Blau, L Kierat, H C Curtius, M Blaskovics, T Giudici

J Inherit Metab Dis· November 1992

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Primapterinuria: a new variant of atypical phenylketonuria.
N Blau, H C Curtius, T Kuster, A Matasovic, G Schoedon, M Blaskovics

J Inherit Metab Dis· January 1990

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A new variant of biopterin deficiency.
M Blaskovics, T A Giudici

N Engl J Med· December 1988

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