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R Parini

Showing results (51-60 of 72) with videos related to

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Journal of Medical Genetics|August 16, 2003
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriersA Morrone, C Cavicchi, T Bardelli, et al.
The British Journal of Dermatology|June 19, 2007
Fabry disease and the skin: data from FOS, the Fabry outcome surveyC H Orteu, T Jansen, O Lidove, et al.
Clinical Genetics|May 1, 2008
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score IndexR Parini, M Rigoldi, F Santus, et al.
Molecular Genetics and Metabolism|May 2, 2017
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)P Harmatz, C J Hendriksz, C Lampe, et al.
The British Journal of Dermatology|March 29, 2012
Angiokeratoma: decision-making aid for the diagnosis of Fabry diseaseA Zampetti, C H Orteu, D Antuzzi, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Carbohydrate-deficient glycoprotein syndromes: the Italian experienceM Di Rocco, R Barone, A Adami, et al.
Gene|December 17, 2011
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohortS Funghini, J Thusberg, M Spada, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 7, 2008
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective studyS Buechner, M Moretti, A P Burlina, et al.
Biochimica Et Biophysica Acta|November 28, 2009
Functional studies of new GLA gene mutations leading to conformational Fabry diseaseC Filoni, A Caciotti, L Carraresi, et al.
Hormone Research in Paediatrics|January 10, 2014
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1bD Melis, R Pivonello, M Cozzolino, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|August 16, 2003
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriersA Morrone, C Cavicchi, T Bardelli, et al.
The British Journal of Dermatology|June 19, 2007
Fabry disease and the skin: data from FOS, the Fabry outcome surveyC H Orteu, T Jansen, O Lidove, et al.
Clinical Genetics|May 1, 2008
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score IndexR Parini, M Rigoldi, F Santus, et al.
Molecular Genetics and Metabolism|May 2, 2017
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)P Harmatz, C J Hendriksz, C Lampe, et al.
The British Journal of Dermatology|March 29, 2012
Angiokeratoma: decision-making aid for the diagnosis of Fabry diseaseA Zampetti, C H Orteu, D Antuzzi, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Carbohydrate-deficient glycoprotein syndromes: the Italian experienceM Di Rocco, R Barone, A Adami, et al.
Gene|December 17, 2011
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohortS Funghini, J Thusberg, M Spada, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 7, 2008
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective studyS Buechner, M Moretti, A P Burlina, et al.
Biochimica Et Biophysica Acta|November 28, 2009
Functional studies of new GLA gene mutations leading to conformational Fabry diseaseC Filoni, A Caciotti, L Carraresi, et al.
Hormone Research in Paediatrics|January 10, 2014
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1bD Melis, R Pivonello, M Cozzolino, et al.
Pageof 8