Last Updated: 09/26/2026
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Found 9 publications
Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.
Journal: American journal of medical genetics. Part A
Published: February 21, 2026
Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies.
Journal: The Lancet. Neurology
Published: January 15, 2025
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.
Journal: American journal of medical genetics. Part A
Published: October 04, 2024
Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse.
Journal: bioRxiv : the preprint server for biology
Published: January 08, 2024
Progressive Thrombocytopenia, Splenomegaly, and Abnormal Tone in an Infant With Growth Faltering.
Journal: Pediatrics
Published: October 02, 2023
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
Journal: eLife
Published: July 23, 2020
Structure of protein O-mannose kinase reveals a unique active site architecture.
Journal: eLife
Published: October 10, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026