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S Scheibenreiter

Showing results (41-50 of 46) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|April 16, 1979
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterinH C Curtius, A Niederwieser, M Viscontini, et al.
Pediatrics|June 1, 1992
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapyK Widhalm, S Koch, S Scheibenreiter, et al.
Human Mutation|January 1, 1997
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresisS Greber-Platzer, P Guldberg, S Scheibenreiter, et al.
Molecular Genetics and Metabolism|March 19, 2010
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in AustriaS Mercimek-Mahmutoglu, D Moeslinger, J Häberle, et al.
European Journal of Pediatrics|June 5, 2001
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaD Möslinger, S Stöckler-Ipsiroglu, S Scheibenreiter, et al.
Helvetica Paediatrica Acta|September 1, 1980
Excretion of pterins in phenylketonuria and phenylketonuria variantsA Niederwieser, H C Curtius, R Gitzelmann, et al.
Pageof 5

Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 16, 1979
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterinH C Curtius, A Niederwieser, M Viscontini, et al.
Pediatrics|June 1, 1992
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapyK Widhalm, S Koch, S Scheibenreiter, et al.
Human Mutation|January 1, 1997
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresisS Greber-Platzer, P Guldberg, S Scheibenreiter, et al.
Molecular Genetics and Metabolism|March 19, 2010
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in AustriaS Mercimek-Mahmutoglu, D Moeslinger, J Häberle, et al.
European Journal of Pediatrics|June 5, 2001
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaD Möslinger, S Stöckler-Ipsiroglu, S Scheibenreiter, et al.
Helvetica Paediatrica Acta|September 1, 1980
Excretion of pterins in phenylketonuria and phenylketonuria variantsA Niederwieser, H C Curtius, R Gitzelmann, et al.
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