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P S Kishnani

Showing results (1-10 of 27) with videos related to

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Journal of Inherited Metabolic Disease|October 13, 1999
Nutritional deficiencies in a patient with glycogen storage disease type IbP S Kishnani, A Boney, Y T Chen
Journal of Inherited Metabolic Disease|February 20, 2007
Glycogen storage disease types I and II: treatment updatesD D Koeberl, P S Kishnani, Y T Chen
Cellular Immunology|January 4, 2018
Immunomodulatory, liver depot gene therapy for Pompe diseaseJ E Bond, P S Kishnani, D D Koeberl
Trends in Endocrinology and Metabolism: TEM|June 23, 2009
Emerging therapies for glycogen storage disease type ID D Koeberl, P S Kishnani, D Bali, et al.
Journal of Endocrinological Investigation|January 18, 2024
A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United StatesK M Dahir, E T Rush, S Diaz-Mendoza, et al.
Clinical Pediatrics|June 5, 2001
Frequency of celiac disease in individuals with Down syndrome in the United StatesJ Mackey, W R Treem, G Worley, et al.
Molecular Genetics and Metabolism|February 3, 2000
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage diseaseW L Shaiu, P S Kishnani, J Shen, et al.
American Journal of Medical Genetics|October 6, 1999
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?A Ahmad, A Amalfitano, Y T Chen, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotypeR Hanna, M T McDonald, J A Sullivan, et al.
Journal of Inherited Metabolic Disease|August 21, 2007
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiencyV Krishnamurthy, K Eschrich, A Boney, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Journal of Inherited Metabolic Disease|October 13, 1999
Nutritional deficiencies in a patient with glycogen storage disease type IbP S Kishnani, A Boney, Y T Chen
Journal of Inherited Metabolic Disease|February 20, 2007
Glycogen storage disease types I and II: treatment updatesD D Koeberl, P S Kishnani, Y T Chen
Cellular Immunology|January 4, 2018
Immunomodulatory, liver depot gene therapy for Pompe diseaseJ E Bond, P S Kishnani, D D Koeberl
Trends in Endocrinology and Metabolism: TEM|June 23, 2009
Emerging therapies for glycogen storage disease type ID D Koeberl, P S Kishnani, D Bali, et al.
Journal of Endocrinological Investigation|January 18, 2024
A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United StatesK M Dahir, E T Rush, S Diaz-Mendoza, et al.
Clinical Pediatrics|June 5, 2001
Frequency of celiac disease in individuals with Down syndrome in the United StatesJ Mackey, W R Treem, G Worley, et al.
Molecular Genetics and Metabolism|February 3, 2000
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage diseaseW L Shaiu, P S Kishnani, J Shen, et al.
American Journal of Medical Genetics|October 6, 1999
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?A Ahmad, A Amalfitano, Y T Chen, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotypeR Hanna, M T McDonald, J A Sullivan, et al.
Journal of Inherited Metabolic Disease|August 21, 2007
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiencyV Krishnamurthy, K Eschrich, A Boney, et al.
Pageof 3