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A Ponzone

Showing results (51-60 of 89) with videos related to

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European Journal of Pediatrics|August 1, 1994
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiencyA Ponzone, S Ferraris, M Spada, et al.
Archives of Disease in Childhood|February 1, 1988
Two mutations of dihydropteridine reductase deficiencyA Ponzone, O Guardamagna, S Ferraris, et al.
European Journal of Human Genetics : EJHG|December 22, 1999
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, ItalyI Dianzani, R G Cotton, C Camaschella, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotypeA Ponzone, N Blau, O Guardamagna, et al.
Human Mutation|November 26, 1999
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, ItalyI Dianzani, U Landegren, C Camaschella, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemiaA Peduto, M Spada, A Alluto, et al.
European Journal of Pediatrics|May 1, 1985
Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liverA Niederwieser, W Leimbacher, H C Curtius, et al.
European Journal of Pediatrics|August 1, 1993
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading testA Ponzone, O Guardamagna, M Spada, et al.
Pediatric Research|November 1, 1991
Tetrahydrobiopterin loading test in hyperphenylalaninemiaA Ponzone, O Guardamagna, S Ferraris, et al.
American Journal of Human Genetics|March 1, 1991
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutationI Dianzani, S M Forrest, C Camaschella, et al.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
European Journal of Pediatrics|August 1, 1994
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiencyA Ponzone, S Ferraris, M Spada, et al.
Archives of Disease in Childhood|February 1, 1988
Two mutations of dihydropteridine reductase deficiencyA Ponzone, O Guardamagna, S Ferraris, et al.
European Journal of Human Genetics : EJHG|December 22, 1999
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, ItalyI Dianzani, R G Cotton, C Camaschella, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotypeA Ponzone, N Blau, O Guardamagna, et al.
Human Mutation|November 26, 1999
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, ItalyI Dianzani, U Landegren, C Camaschella, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemiaA Peduto, M Spada, A Alluto, et al.
European Journal of Pediatrics|May 1, 1985
Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liverA Niederwieser, W Leimbacher, H C Curtius, et al.
European Journal of Pediatrics|August 1, 1993
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading testA Ponzone, O Guardamagna, M Spada, et al.
Pediatric Research|November 1, 1991
Tetrahydrobiopterin loading test in hyperphenylalaninemiaA Ponzone, O Guardamagna, S Ferraris, et al.
American Journal of Human Genetics|March 1, 1991
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutationI Dianzani, S M Forrest, C Camaschella, et al.
Pageof 9