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Publications by May C. Malicdan

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics

English

Combined Alpha-Delta Platelet Storage Pool Deficiency Is Associated With Mutations in GFI1B

Molecular Genetics and Metabolism

Molecular Biology

English

Related publications

Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

Molecular Biology

English

Clinical and Genetic Characteristics of Nonaka Myopathy (GNE-myopathy) in Russian Patients

Nervno-Myshechnye Bolezni

English

Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease

English

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease

English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

Etiology. Epidemiology, Diagnosis and Current Therapeutic Protocols for Parkinson's Disease (PD): An Overview

International Journal of Contemporary Medicine, Surgery and Radiology

English

Development and Preliminary Evidence of the Psychometric Properties of the GNE Myopathy Functional Activity Scale

Journal of Comparative Effectiveness Research

English

Etiology and Diagnosis of Chronic Pancreatitis

Korean Journal of Pancreas and Biliary Tract

English

Micropenis: Etiology, Diagnosis and Treatment Approaches

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English