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R Parini

Showing results (41-50 of 72) with videos related to

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JIMD Reports|May 21, 2013
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD DefectR Parini, F Furlan, A Brambilla, et al.
Neuropediatrics|July 12, 2011
Epilepsy and argininosuccinic aciduriaD Grioni, F Furlan, C Corbetta, et al.
Molecular Genetics and Metabolism|June 27, 2002
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC geneS Bisanzi, A Morrone, M A Donati, et al.
European Journal of Pediatrics|December 11, 2008
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1bD Melis, R Della Casa, R Parini, et al.
European Journal of Pediatrics|January 7, 1999
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiencyR Parini, F Menni, B Garavaglia, et al.
Orphanet Journal of Rare Diseases|May 25, 2017
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfaD Hughes, R Giugliani, N Guffon, et al.
FEBS Letters|October 13, 1999
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1cL Galli, A Orrico, P Marcolongo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 20, 2008
GALNS gene expression profiling in Morquio A patients' fibroblastsL Carraresi, R Parini, C Filoni, et al.
Human Mutation|March 29, 2000
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvementA Morrone, T Bardelli, M A Donati, et al.
Human Mutation|August 31, 2002
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutationsN Venturi, A Rovelli, R Parini, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
JIMD Reports|May 21, 2013
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD DefectR Parini, F Furlan, A Brambilla, et al.
Neuropediatrics|July 12, 2011
Epilepsy and argininosuccinic aciduriaD Grioni, F Furlan, C Corbetta, et al.
Molecular Genetics and Metabolism|June 27, 2002
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC geneS Bisanzi, A Morrone, M A Donati, et al.
European Journal of Pediatrics|December 11, 2008
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1bD Melis, R Della Casa, R Parini, et al.
European Journal of Pediatrics|January 7, 1999
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiencyR Parini, F Menni, B Garavaglia, et al.
Orphanet Journal of Rare Diseases|May 25, 2017
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfaD Hughes, R Giugliani, N Guffon, et al.
FEBS Letters|October 13, 1999
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1cL Galli, A Orrico, P Marcolongo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 20, 2008
GALNS gene expression profiling in Morquio A patients' fibroblastsL Carraresi, R Parini, C Filoni, et al.
Human Mutation|March 29, 2000
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvementA Morrone, T Bardelli, M A Donati, et al.
Human Mutation|August 31, 2002
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutationsN Venturi, A Rovelli, R Parini, et al.
Pageof 8