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Rossella Parini

Showing results (11-20 of 121) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry diseaseLorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
JIMD Reports|October 14, 2014
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type IIIAlessandra Brambilla, Savina Mannarino, Roberta Pretese, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|April 30, 2004
The Fanconi-Bickel syndrome: a case of neonatal onsetSilvia Riva, Carmela Ghisalberti, Rossella Parini, et al.
Vaccine|October 31, 2015
Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccinesMarta Cerutti, Pascale De Lonlay, Francesca Menni, et al.
Molecular Genetics and Metabolism|February 6, 2016
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)Rossella Parini, Simon A Jones, Paul R Harmatz, et al.
JIMD Reports|December 19, 2014
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Adrian Quartel, Christian J Hendriksz, Rossella Parini, et al.
American Journal of Medical Genetics. Part A|December 7, 2017
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Can Ficicioglu, Roberto Giugliani, Paul Harmatz, et al.
Molecular Genetics and Metabolism|March 30, 2013
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)Simon A Jones, Rossella Parini, Paul Harmatz, et al.
European Journal of Clinical Investigation|February 9, 2011
Modelling the resource implications of managing adults with Fabry disease in ItalyJulian F Guest, Daniela Concolino, Raffaele Di Vito, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 4, 2026
Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case reportLaura Veronelli, Anna Commone, Mara Botti, et al.
Pageof 13

Showing results (11-20 of 121) with videos related to

Sort By:
Pageof 13
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry diseaseLorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
JIMD Reports|October 14, 2014
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type IIIAlessandra Brambilla, Savina Mannarino, Roberta Pretese, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|April 30, 2004
The Fanconi-Bickel syndrome: a case of neonatal onsetSilvia Riva, Carmela Ghisalberti, Rossella Parini, et al.
Vaccine|October 31, 2015
Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccinesMarta Cerutti, Pascale De Lonlay, Francesca Menni, et al.
Molecular Genetics and Metabolism|February 6, 2016
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)Rossella Parini, Simon A Jones, Paul R Harmatz, et al.
JIMD Reports|December 19, 2014
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Adrian Quartel, Christian J Hendriksz, Rossella Parini, et al.
American Journal of Medical Genetics. Part A|December 7, 2017
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Can Ficicioglu, Roberto Giugliani, Paul Harmatz, et al.
Molecular Genetics and Metabolism|March 30, 2013
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)Simon A Jones, Rossella Parini, Paul Harmatz, et al.
European Journal of Clinical Investigation|February 9, 2011
Modelling the resource implications of managing adults with Fabry disease in ItalyJulian F Guest, Daniela Concolino, Raffaele Di Vito, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 4, 2026
Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case reportLaura Veronelli, Anna Commone, Mara Botti, et al.
Pageof 13