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Miriam Rigoldi

Showing results (1-10 of 35) with videos related to

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Italian Journal of Pediatrics|November 17, 2018
Clinical hints to diagnosis of attenuated forms of MucopolysaccharidosesMiriam Rigoldi, Elena Verrecchia, Raffaele Manna, et al.
British Journal of Nursing (Mark Allen Publishing)|July 22, 2010
Intravenous enzyme replacement therapy: hospital vs homeRossella Parini, Katia Pozzi, Stefania Di Mauro, et al.
Nephron|September 18, 2024
Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case ReportMiriam Rigoldi, Caterina Mele, Matteo Breno, et al.
JIMD Reports|December 24, 2013
Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian studyAnnalisa Sechi, Laura Deroma, Sabrina Paci, et al.
Child Neurology Open|May 16, 2017
Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 CasesDaniele Grioni, Andrea Landi, Serena Gasperini, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian studyAnnalisa Sechi, Laura Deroma, Annunziata Lapolla, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disordersAlessandra Brambilla, Maria L Bianchi, Raffaella Cancello, et al.
Nephron|May 26, 2023
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex RearrangementSilvia Orisio, Marina Noris, Miriam Rigoldi, et al.
Metabolic Brain Disease|July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiencyMarta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Molecular Cytogenetics|September 12, 2018
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two casesDonatella Conconi, Nicoletta Villa, Serena Redaelli, et al.
Pageof 4

Showing results (1-10 of 35) with videos related to

Sort By:
Pageof 4
Italian Journal of Pediatrics|November 17, 2018
Clinical hints to diagnosis of attenuated forms of MucopolysaccharidosesMiriam Rigoldi, Elena Verrecchia, Raffaele Manna, et al.
British Journal of Nursing (Mark Allen Publishing)|July 22, 2010
Intravenous enzyme replacement therapy: hospital vs homeRossella Parini, Katia Pozzi, Stefania Di Mauro, et al.
Nephron|September 18, 2024
Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case ReportMiriam Rigoldi, Caterina Mele, Matteo Breno, et al.
JIMD Reports|December 24, 2013
Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian studyAnnalisa Sechi, Laura Deroma, Sabrina Paci, et al.
Child Neurology Open|May 16, 2017
Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 CasesDaniele Grioni, Andrea Landi, Serena Gasperini, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian studyAnnalisa Sechi, Laura Deroma, Annunziata Lapolla, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disordersAlessandra Brambilla, Maria L Bianchi, Raffaella Cancello, et al.
Nephron|May 26, 2023
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex RearrangementSilvia Orisio, Marina Noris, Miriam Rigoldi, et al.
Metabolic Brain Disease|July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiencyMarta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Molecular Cytogenetics|September 12, 2018
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two casesDonatella Conconi, Nicoletta Villa, Serena Redaelli, et al.
Pageof 4