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S Eichler

Showing results (101-110 of 112) with videos related to

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Journal of Proteomics|February 19, 2022
Proteomic analysis reveals rattlesnake venom modulation of proteins associated with cardiac tissue damage in mouse heartsW S Santos, Fabio Montoni, R A S Eichler, et al.
Nucleic Acids Research|June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experienceStanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Journal of Child Neurology|September 3, 2020
Practical Approaches and Knowledge Gaps in the Care for Children With LeukodystrophiesStephanie R Keller, Eric J Mallack, Jennifer P Rubin, et al.
NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
The New England Journal of Medicine|October 9, 2024
Hematologic Cancer after Gene Therapy for Cerebral AdrenoleukodystrophyChristine N Duncan, Jacob R Bledsoe, Bartosz Grzywacz, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Neurology|September 29, 2022
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based ApproachMarc Engelen, Wouter J C van Ballegoij, Eric James Mallack, et al.
Biomolecules|February 22, 2020
The Relevance of Thimet Oligopeptidase in the Regulation of Energy Metabolism and Diet-Induced ObesityMayara C F Gewehr, Alexandre A S Teixeira, Bruna A C Santos, et al.
Nature Medicine|February 11, 2022
AAV gene therapy for Tay-Sachs diseaseTerence R Flotte, Oguz Cataltepe, Ajit Puri, et al.
Pageof 12

Showing results (101-110 of 112) with videos related to

Sort By:
Pageof 12
Journal of Proteomics|February 19, 2022
Proteomic analysis reveals rattlesnake venom modulation of proteins associated with cardiac tissue damage in mouse heartsW S Santos, Fabio Montoni, R A S Eichler, et al.
Nucleic Acids Research|June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experienceStanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Journal of Child Neurology|September 3, 2020
Practical Approaches and Knowledge Gaps in the Care for Children With LeukodystrophiesStephanie R Keller, Eric J Mallack, Jennifer P Rubin, et al.
NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
The New England Journal of Medicine|October 9, 2024
Hematologic Cancer after Gene Therapy for Cerebral AdrenoleukodystrophyChristine N Duncan, Jacob R Bledsoe, Bartosz Grzywacz, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Neurology|September 29, 2022
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based ApproachMarc Engelen, Wouter J C van Ballegoij, Eric James Mallack, et al.
Biomolecules|February 22, 2020
The Relevance of Thimet Oligopeptidase in the Regulation of Energy Metabolism and Diet-Induced ObesityMayara C F Gewehr, Alexandre A S Teixeira, Bruna A C Santos, et al.
Nature Medicine|February 11, 2022
AAV gene therapy for Tay-Sachs diseaseTerence R Flotte, Oguz Cataltepe, Ajit Puri, et al.
Pageof 12