Showing results (11-20 of 207) with videos related to
Sort By:
Pageof 21
Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica|April 9, 2005
Fabry disease. A case reportJozica Kotnik, Franc Kotnik, Robert J DesnickMolecular Genetics and Metabolism|December 31, 2018
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genesMakiko Yasuda, Brenden Chen, Robert J DesnickFrontiers in Neurology|December 8, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and managementMohamed Kazamel, Elena Pischik, Robert J DesnickMolecular Genetics and Metabolism|June 9, 2005
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapyMaryam Banikazemi, Thomas Ullman, Robert J DesnickJournal of Inherited Metabolic Disease|March 25, 2011
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil alleleManisha Balwani, Marie E Grace, Robert J DesnickCurrent Neurology and Neuroscience Reports|October 7, 2020
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated ManagementMohamed Kazamel, Robert J Desnick, John G QuigleyMolecular Genetics and Metabolism|September 26, 2025
Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish populationDonna L Bernstein, Inga Peter, Robert J DesnickMolecular Medicine (Cambridge, Mass.)|January 26, 2019
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutantsVassili Tchaikovskii, Robert J Desnick, David F BishopAmerican Journal of Human Genetics|June 11, 2003
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formationMakiko Yasuda, Junaid Shabbeer, Makiko Osawa, et al.Molecular Genetics and Metabolism|August 15, 2002
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotypeJunaid Shabbeer, Makiko Yasuda, Edlira Luca, et al.Pageof 21