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Marjan Huizing

Showing results (41-50 of 130) with videos related to

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Molecular Genetics and Metabolism|December 4, 2014
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transferYasuhiro Ikawa, Richard Hess, Heidi Dorward, et al.
Clinical Pharmacology in Drug Development|June 20, 2024
Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and WomenAllan M Evans, Gianfranco Fornasini, Tahlia R Meola, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin, Rachel Slaugh, Marvin Natowicz, et al.
Biochemistry and Biophysics Reports|March 27, 2025
Lack of significant ganglioside changes in <i>Slc17a5</i> heterozygous mice: Relevance to FSASD and Parkinson's diseaseMarya S Sabir, Mahin S Hossain, Laura Pollard, et al.
Molecular Genetics and Metabolism|February 20, 2004
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutationsMarjan Huizing, Goran Rakocevic, Susan E Sparks, et al.
Thorax|June 27, 2018
Hermansky-Pudlak syndrome with a novel genetic variant in <i>HPS1</i> and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseasesOliver J McElvaney, Marjan Huizing, William A Gahl, et al.
Molecular Genetics and Metabolism|March 31, 2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan Huizing, Heidi Dorward, Lien Ly, et al.
Ophthalmology|August 4, 2004
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1Ekaterini T Tsilou, Benjamin I Rubin, George F Reed, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.
Pageof 13

Showing results (41-50 of 130) with videos related to

Sort By:
Pageof 13
Molecular Genetics and Metabolism|December 4, 2014
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transferYasuhiro Ikawa, Richard Hess, Heidi Dorward, et al.
Clinical Pharmacology in Drug Development|June 20, 2024
Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and WomenAllan M Evans, Gianfranco Fornasini, Tahlia R Meola, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin, Rachel Slaugh, Marvin Natowicz, et al.
Biochemistry and Biophysics Reports|March 27, 2025
Lack of significant ganglioside changes in <i>Slc17a5</i> heterozygous mice: Relevance to FSASD and Parkinson's diseaseMarya S Sabir, Mahin S Hossain, Laura Pollard, et al.
Molecular Genetics and Metabolism|February 20, 2004
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutationsMarjan Huizing, Goran Rakocevic, Susan E Sparks, et al.
Thorax|June 27, 2018
Hermansky-Pudlak syndrome with a novel genetic variant in <i>HPS1</i> and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseasesOliver J McElvaney, Marjan Huizing, William A Gahl, et al.
Molecular Genetics and Metabolism|March 31, 2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan Huizing, Heidi Dorward, Lien Ly, et al.
Ophthalmology|August 4, 2004
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1Ekaterini T Tsilou, Benjamin I Rubin, George F Reed, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.
Pageof 13