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Bone Marrow Transplantation
|
May 16, 2003
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases
G Gaipa, M Dassi, P Perseghin, et al.
Clinical Endocrinology
|
June 21, 2005
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
D Melis, G Parenti, R Gatti, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Physiological Reports
|
February 22, 2026
Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III
F Lanfranconi, L Peli, L Pollastri, et al.
American Journal of Human Genetics
|
January 13, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
M P Sperandeo, M T Bassi, M Riboni, et al.
Clinical Genetics
|
April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
L Ferri, C Guido, G la Marca, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2007
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
B Merinero, B Pérez, C Pérez-Cerdá, et al.
Journal of Neurology
|
November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, et al.
Pediatrics
|
November 11, 2009
Multidisciplinary management of Hunter syndrome
Joseph Muenzer, M Beck, C M Eng, et al.
Molecular Genetics and Metabolism Reports
|
July 14, 2017
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
D Concolino, L Amico, M D Cappellini, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 72) with videos related to
Sort By:
Page
of 8
Bone Marrow Transplantation
|
May 16, 2003
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases
G Gaipa, M Dassi, P Perseghin, et al.
Clinical Endocrinology
|
June 21, 2005
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
D Melis, G Parenti, R Gatti, et al.
Journal of Neurology
|
October 31, 2014
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M Carrozzi, R Parini, et al.
Physiological Reports
|
February 22, 2026
Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III
F Lanfranconi, L Peli, L Pollastri, et al.
American Journal of Human Genetics
|
January 13, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
M P Sperandeo, M T Bassi, M Riboni, et al.
Clinical Genetics
|
April 27, 2011
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
L Ferri, C Guido, G la Marca, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2007
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
B Merinero, B Pérez, C Pérez-Cerdá, et al.
Journal of Neurology
|
November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, et al.
Pediatrics
|
November 11, 2009
Multidisciplinary management of Hunter syndrome
Joseph Muenzer, M Beck, C M Eng, et al.
Molecular Genetics and Metabolism Reports
|
July 14, 2017
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
D Concolino, L Amico, M D Cappellini, et al.
Page
of 8