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A Ponzone

Showing results (61-70 of 89) with videos related to

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Journal of Inherited Metabolic Disease|August 1, 1998
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutationsM Spada, I Dianzani, G Bonetti, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patientsL de Sanctis, M Bruno, G Bonetti, et al.
American Journal of Human Genetics|October 1, 1994
Genetic history of phenylketonuria mutations in ItalyI Dianzani, S Giannattasio, L de Sanctis, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 1, 1994
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissueN Blau, L Kierat, A Matasovic, et al.
Journal of Medical Genetics|March 1, 1993
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutationI Dianzani, C Camaschella, G Saglio, et al.
Journal of Medical Genetics|June 1, 1993
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiencyI Dianzani, D W Howells, A Ponzone, et al.
Prenatal Diagnosis|October 1, 1994
Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuriaV Romano, I Dianzani, A Ponzone, et al.
Pediatric Research|February 1, 1993
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatmentA Ponzone, O Guardamagna, I Dianzani, et al.
Human Mutation|January 1, 1997
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian familiesT Oppliger, B Thöny, C Kluge, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 16, 1993
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytesA Ponzone, O Guardamagna, M Spada, et al.
Pageof 9

Showing results (61-70 of 89) with videos related to

Sort By:
Pageof 9
Journal of Inherited Metabolic Disease|August 1, 1998
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutationsM Spada, I Dianzani, G Bonetti, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patientsL de Sanctis, M Bruno, G Bonetti, et al.
American Journal of Human Genetics|October 1, 1994
Genetic history of phenylketonuria mutations in ItalyI Dianzani, S Giannattasio, L de Sanctis, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 1, 1994
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissueN Blau, L Kierat, A Matasovic, et al.
Journal of Medical Genetics|March 1, 1993
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutationI Dianzani, C Camaschella, G Saglio, et al.
Journal of Medical Genetics|June 1, 1993
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiencyI Dianzani, D W Howells, A Ponzone, et al.
Prenatal Diagnosis|October 1, 1994
Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuriaV Romano, I Dianzani, A Ponzone, et al.
Pediatric Research|February 1, 1993
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatmentA Ponzone, O Guardamagna, I Dianzani, et al.
Human Mutation|January 1, 1997
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian familiesT Oppliger, B Thöny, C Kluge, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 16, 1993
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytesA Ponzone, O Guardamagna, M Spada, et al.
Pageof 9