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William B Rizzo

Showing results (11-20 of 50) with videos related to

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American Journal of Medical Genetics. Part A|August 18, 2017
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotypeEric T Rush, Craig V Baker, William B Rizzo
Molecular Genetics and Metabolism Reports|March 4, 2022
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agentsWilliam B Rizzo, Dana S'aulis, Elizabeth Dorwart, et al.
The Journal of Investigative Dermatology|January 14, 2011
Meeting report from Frontiers in Ichthyosis ResearchLeonard M Milstone, William B Rizzo, Jean R Pickford
Molecular Genetics and Metabolism|August 18, 2020
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndromeDana S'aulis, Emily A Khoury, Morgan Zabel, et al.
Metabolites|June 27, 2023
Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical PathwaysHongying Daisy Dai, Fang Qiu, Kimberly Jackson, et al.
Molecular Genetics and Metabolism|December 9, 2015
Low bone mineral density is a common feature of Zellweger spectrum disordersEric T Rush, Jennifer L Goodwin, Nancy E Braverman, et al.
Molecular Genetics and Metabolism Reports|June 23, 2016
Reply: Low bone mineral density is a common feature of Zellweger spectrum disordersEric T Rush, Jennifer L Goodwin, Nancy E Braverman, et al.
SAGE Open Medical Case Reports|August 5, 2016
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathyEric T Rush, Julianne E Hartmann, Jill C Skrabal, et al.
Journal of Child Neurology|March 2, 2012
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infantMohammad R Mohebbi, Eric T Rush, William B Rizzo, et al.
Ophthalmology|March 19, 2015
Segmentation of Retinal Layers in Sjögren-Larsson SyndromeLoren S Jack, Christy Benson, Mohammad A Sadiq, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|August 18, 2017
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotypeEric T Rush, Craig V Baker, William B Rizzo
Molecular Genetics and Metabolism Reports|March 4, 2022
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agentsWilliam B Rizzo, Dana S'aulis, Elizabeth Dorwart, et al.
The Journal of Investigative Dermatology|January 14, 2011
Meeting report from Frontiers in Ichthyosis ResearchLeonard M Milstone, William B Rizzo, Jean R Pickford
Molecular Genetics and Metabolism|August 18, 2020
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndromeDana S'aulis, Emily A Khoury, Morgan Zabel, et al.
Metabolites|June 27, 2023
Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical PathwaysHongying Daisy Dai, Fang Qiu, Kimberly Jackson, et al.
Molecular Genetics and Metabolism|December 9, 2015
Low bone mineral density is a common feature of Zellweger spectrum disordersEric T Rush, Jennifer L Goodwin, Nancy E Braverman, et al.
Molecular Genetics and Metabolism Reports|June 23, 2016
Reply: Low bone mineral density is a common feature of Zellweger spectrum disordersEric T Rush, Jennifer L Goodwin, Nancy E Braverman, et al.
SAGE Open Medical Case Reports|August 5, 2016
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathyEric T Rush, Julianne E Hartmann, Jill C Skrabal, et al.
Journal of Child Neurology|March 2, 2012
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infantMohammad R Mohebbi, Eric T Rush, William B Rizzo, et al.
Ophthalmology|March 19, 2015
Segmentation of Retinal Layers in Sjögren-Larsson SyndromeLoren S Jack, Christy Benson, Mohammad A Sadiq, et al.
Pageof 5