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G Sebastio

Showing results (41-50 of 67) with videos related to

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American Journal of Physiology. Cell Physiology|November 18, 2000
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjectsV Dall'Asta, O Bussolati, R Sala, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11M P Sperandeo, M Panico, A Pepe, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo, M Candito, G Sebastio, et al.
Prenatal Diagnosis|August 19, 1999
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case reportM P Sperandeo, A Buoninconti, A Passariello, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase geneV Guzzetta, G Bonapace, I Dianzani, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
American Journal of Human Genetics|April 1, 1991
Cystic fibrosis patients with liver disease are not genetically distinctM Ferrari, C Colombo, G Sebastio, et al.
American Journal of Respiratory and Critical Care Medicine|February 1, 1996
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methodsF Santamaria, G Parenti, G Guidi, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
American Journal of Physiology. Cell Physiology|November 18, 2000
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjectsV Dall'Asta, O Bussolati, R Sala, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11M P Sperandeo, M Panico, A Pepe, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo, M Candito, G Sebastio, et al.
Prenatal Diagnosis|August 19, 1999
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case reportM P Sperandeo, A Buoninconti, A Passariello, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase geneV Guzzetta, G Bonapace, I Dianzani, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
American Journal of Human Genetics|April 1, 1991
Cystic fibrosis patients with liver disease are not genetically distinctM Ferrari, C Colombo, G Sebastio, et al.
American Journal of Respiratory and Critical Care Medicine|February 1, 1996
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methodsF Santamaria, G Parenti, G Guidi, et al.
Pageof 7