Diagnostic screening for mucopolysaccharidoses types I-VII by fluorophore-labelled carbohydrate PAGE
Giudici, T A, Sunico, H, Blaskovics, M
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Journal Article
Primapterinuria: a new variant of atypical phenylketonuria
Blau, N, Curtius, H C, Kuster, T, Matasovic, A, Schoedon, G, Dhondt, J L, Guibaud, P, Giudici, T, Blaskovics, M
Published in Journal of inherited metabolic disease (01.01.1989)
Published in Journal of inherited metabolic disease (01.01.1989)
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Journal Article
Phenylalaninaemia. Differential diagnosis
Blaskovics, M E, Schaeffler, G E, Hack, S
Published in Archives of disease in childhood (01.11.1974)
Published in Archives of disease in childhood (01.11.1974)
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Journal Article
7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
Adler, C., Curtius, H.-C., Wetzel, E., Giudici, T. A., Blaskovics, M., Viscontini, M.
Published in Pteridines (01.02.1991)
Published in Pteridines (01.02.1991)
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Journal Article
Prenatal diagnosis and a case report of isovaleric acidaemia
Blaskovics, M E, Ng, W G, Donnell, G N
Published in Journal of inherited metabolic disease (01.03.1978)
Published in Journal of inherited metabolic disease (01.03.1978)
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Journal Article
Phenylalaninaemia
Blaskovics, M. E., Schaeffler, Graciela E., Hack, Shirley
Published in Archives of disease in childhood (01.11.1974)
Published in Archives of disease in childhood (01.11.1974)
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Journal Article
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)
Thöny, Beat, Neuheiser, Frank, Kierat, Lucja, Blaskovics, Milan, Arn, Pamela H., Ferreira, Patrick, Rebrin, Igor, Ayling, June, Blau, Nenad
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Phenylketonuria and its variations. A review of recent developments
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Book Review
Nutrition in pregnancy of women with hyperphenylalaninemia
Acosta, P B, Blaskovics, M, Cloud, H, Lis, E, Stroud, H, Wenz, E
Published in Journal of the American Dietetic Association (01.05.1982)
Published in Journal of the American Dietetic Association (01.05.1982)
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Journal Article
Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry
Trefz, Friedrich K., Byrd, Dennis J., Blaskovics, Milan E., Kochen, Walter, Lutz, Peter
Published in Clinica chimica acta (01.12.1976)
Published in Clinica chimica acta (01.12.1976)
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Journal Article
Drug interaction: Diazoxide and diphenylhydantoin
Roe, Thomas F., Podosin, Robert L., Blaskovics, Millan E.
Published in The Journal of pediatrics (01.09.1975)
Published in The Journal of pediatrics (01.09.1975)
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