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Miriam Rigoldi

Showing results (21-30 of 35) with videos related to

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Italian Journal of Pediatrics|November 17, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancyFrancesca Furlan, Attilio Rovelli, Miriam Rigoldi, et al.
Iscience|September 21, 2023
A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by NeanderthalsMatteo Breno, Marina Noris, Nadia Rubis, et al.
Journal of Inherited Metabolic Disease|February 10, 2018
Hepatocellular carcinoma in Gaucher disease: an international case seriesMartine Regenboog, Laura van Dussen, Joanne Verheij, et al.
Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.
Journal of Inherited Metabolic Disease|February 18, 2020
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendationsAlessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patientsRossella Parini, Miriam Rigoldi, Lucia Tedesco, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Italian Journal of Pediatrics|November 17, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancyFrancesca Furlan, Attilio Rovelli, Miriam Rigoldi, et al.
Iscience|September 21, 2023
A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by NeanderthalsMatteo Breno, Marina Noris, Nadia Rubis, et al.
Journal of Inherited Metabolic Disease|February 10, 2018
Hepatocellular carcinoma in Gaucher disease: an international case seriesMartine Regenboog, Laura van Dussen, Joanne Verheij, et al.
Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.
Journal of Inherited Metabolic Disease|February 18, 2020
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendationsAlessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patientsRossella Parini, Miriam Rigoldi, Lucia Tedesco, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
Pageof 4