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Molecular Genetics and Metabolism Reports
|
August 19, 2021
"Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients"
Alessandro Cattoni, Sofia Chiaraluce, Serena Gasperini, et al.
Advances and Technical Standards in Neurosurgery
|
November 23, 2013
Craniovertebral junction pathological features and their management in the mucopolysaccharidoses
Erik Pietro Sganzerla, Carlo Giussani, Marco Grimaldi, et al.
Cardiology in the Young
|
February 7, 2009
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
Vlasta Fesslová, Paola Corti, Giovanna Sersale, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2009
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism
Alessandra Zanetti, Elena Ferraresi, Luigi Picci, et al.
European Journal of Pediatrics
|
September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
Markus Ries, Uma Ramaswami, Rossella Parini, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini, Federica Deodato, Maja Di Rocco, 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 Cases
Daniele Grioni, Andrea Landi, Serena Gasperini, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
December 17, 2009
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period
Johannes Häberle, Maria Antonia Vilaseca, Concetta Meli, et al.
Molecular Genetics and Metabolism
|
July 21, 2019
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program
Christina Lampe, Paul R Harmatz, Rossella Parini, et al.
European Journal of Pediatrics
|
January 9, 2009
Mucopolysaccharidosis VI: the Italian experience
Maurizio Scarpa, Rita Barone, Agata Fiumara, et al.
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of 13
Search research articles
Search
Showing results (21-30 of 121) with videos related to
Sort By:
Page
of 13
Molecular Genetics and Metabolism Reports
|
August 19, 2021
"Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients"
Alessandro Cattoni, Sofia Chiaraluce, Serena Gasperini, et al.
Advances and Technical Standards in Neurosurgery
|
November 23, 2013
Craniovertebral junction pathological features and their management in the mucopolysaccharidoses
Erik Pietro Sganzerla, Carlo Giussani, Marco Grimaldi, et al.
Cardiology in the Young
|
February 7, 2009
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
Vlasta Fesslová, Paola Corti, Giovanna Sersale, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2009
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism
Alessandra Zanetti, Elena Ferraresi, Luigi Picci, et al.
European Journal of Pediatrics
|
September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
Markus Ries, Uma Ramaswami, Rossella Parini, et al.
Orphanet Journal of Rare Diseases
|
June 17, 2017
Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini, Federica Deodato, Maja Di Rocco, 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 Cases
Daniele Grioni, Andrea Landi, Serena Gasperini, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
December 17, 2009
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period
Johannes Häberle, Maria Antonia Vilaseca, Concetta Meli, et al.
Molecular Genetics and Metabolism
|
July 21, 2019
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program
Christina Lampe, Paul R Harmatz, Rossella Parini, et al.
European Journal of Pediatrics
|
January 9, 2009
Mucopolysaccharidosis VI: the Italian experience
Maurizio Scarpa, Rita Barone, Agata Fiumara, et al.
Page
of 13