Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
Blau, N., Kierat, L., Matasovic, A., Leimbacher, W., Heizmann, C.W., Guardamagna, O., Ponzone, A.
Published in Clinica chimica acta (01.05.1994)
Published in Clinica chimica acta (01.05.1994)
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Conference Proceeding
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia
Curtius, H.-Ch, Kuster, Th, Matasovic, A., Blau, N., Dhondt, J.-L.
Published in Biochemical and biophysical research communications (16.06.1988)
Published in Biochemical and biophysical research communications (16.06.1988)
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7-Substituted pterins. A new class of mammalian pteridines
CURTIUS, H.-C, MATASOVIC, A, SZCHOEDON, G, KUSTER, T, GUIBAUD, P, GIUDUCU, T, BLAU, N
Published in The Journal of biological chemistry (05.03.1990)
Published in The Journal of biological chemistry (05.03.1990)
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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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Prenatal diagnosis of atypical phenylketonuria
Blau, N, Niederwieser, A, Curtius, H C, Kierat, L, Leimbacher, W, Matasovic, A, Binkert, F, Lehmann, H, Leupold, D, Guardamagna, O
Published in Journal of inherited metabolic disease (01.01.1989)
Published in Journal of inherited metabolic disease (01.01.1989)
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Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy
Guardamagna, O., Spada, M., Ponzone, A., Viora, E., Ponzone, R., Binkert, F., Matasovic, A., Kierat, L., Blau, N.
Published in Pteridines (01.02.1991)
Published in Pteridines (01.02.1991)
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3′-hydroxysepiapterin in patients with dihydrobiopterin deficiency
Niederwieser, A., Matasović, Ana, Curtius, H.-Ch, Endres, W., Schaub, J.
Published in FEBS letters (08.09.1980)
Published in FEBS letters (08.09.1980)
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Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population
BLAU, N, MATASOVIC, A, LUKASIEWICZ-WEDLECHOWICZ, A, HEIZMANN, C. W, LEUMANN, E
Published in Clinical chemistry (Baltimore, Md.) (01.07.1998)
Published in Clinical chemistry (Baltimore, Md.) (01.07.1998)
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Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS
Blau, Nenad, Scherer-Oppliger, Tanja, Baumer, Alessandra, Riegel, Mariluce, Matasovic, Ana, Schinzel, Albert, Jaeken, Jaak, Thöny, Beat
Published in Human mutation (01.07.2000)
Published in Human mutation (01.07.2000)
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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
Scherer-Oppliger, Tanja, Matasovic, Ana, Laufs, Stephanie, Levy, Harvey L., Quackenbush, Elisabeth J., Blau, Nenad, Thöny, Beat
Published in Human mutation (1999)
Published in Human mutation (1999)
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