Publications by authors named "A Matasovic"

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Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
N Blau, T Scherer-Oppliger, A Baumer, M Riegel, A Matasovic

Hum Mutat· August 2000

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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
T Scherer-Oppliger, A Matasovic, S Laufs, H L Levy, E J Quackenbush

Hum Mutat· June 1999

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Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population.
N Blau, A Matasovic, A Lukasiewicz-Wedlechowicz, C W Heizmann, E Leumann

Clin Chem· July 1998

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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
T Oppliger, B Thöny, C Kluge, A Matasovic, C W Heizmann

Hum Mutat· August 1997

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Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
N Blau, L Kierat, A Matasovic, W Leimbacher, C W Heizmann

Clin Chim Acta· May 1994

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