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Marjan Huizing

Showing results (61-70 of 130) with videos related to

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American Journal of Respiratory and Critical Care Medicine|September 5, 2009
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani, Mark L Brantly, Thomas C Markello, et al.
Traffic (Copenhagen, Denmark)|August 7, 2004
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5Marjan Huizing, Richard Hess, Heidi Dorward, et al.
American Journal of Human Genetics|June 12, 2002
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5AYair Anikster, Marjan Huizing, Paul D Anderson, et al.
Pigment Cell & Melanoma Research|June 20, 2012
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8Andrew R Cullinane, James A Curry, Gretchen Golas, et al.
Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.
Molecular Genetics and Metabolism|November 6, 2012
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathyTerren K Niethamer, Tal Yardeni, Petcharat Leoyklang, et al.
Biomarkers in Medicine|August 16, 2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathyPetcharat Leoyklang, May Christine Malicdan, Tal Yardeni, et al.
Glycobiology|July 1, 2005
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathySusan E Sparks, Carla Ciccone, Molly Lalor, et al.
JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
Molecular Genetics and Metabolism|April 29, 2009
Hermansky-Pudlak syndrome type 1 in patients of Indian descentLisa M Vincent, David Adams, Richard A Hess, et al.
Pageof 13

Showing results (61-70 of 130) with videos related to

Sort By:
Pageof 13
American Journal of Respiratory and Critical Care Medicine|September 5, 2009
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani, Mark L Brantly, Thomas C Markello, et al.
Traffic (Copenhagen, Denmark)|August 7, 2004
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5Marjan Huizing, Richard Hess, Heidi Dorward, et al.
American Journal of Human Genetics|June 12, 2002
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5AYair Anikster, Marjan Huizing, Paul D Anderson, et al.
Pigment Cell & Melanoma Research|June 20, 2012
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8Andrew R Cullinane, James A Curry, Gretchen Golas, et al.
Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.
Molecular Genetics and Metabolism|November 6, 2012
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathyTerren K Niethamer, Tal Yardeni, Petcharat Leoyklang, et al.
Biomarkers in Medicine|August 16, 2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathyPetcharat Leoyklang, May Christine Malicdan, Tal Yardeni, et al.
Glycobiology|July 1, 2005
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathySusan E Sparks, Carla Ciccone, Molly Lalor, et al.
JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
Molecular Genetics and Metabolism|April 29, 2009
Hermansky-Pudlak syndrome type 1 in patients of Indian descentLisa M Vincent, David Adams, Richard A Hess, et al.
Pageof 13