Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Katherine A. Patzel

Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease

English

MECP2promoter Methylation and X Chromosome Inactivation in Autism

Autism Research

English

Related publications

Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

Molecular Biology

English

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics

English

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

Nervno-Myshechnye Bolezni

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

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

Journal of Comparative Effectiveness Research

English

Helicobacter Pylori Binding Non-Acid Glycosphingolipids in the Human Stomach

Journal of Biological Chemistry

Molecular Biology

English

Occurrence of Glycosphingolipids in Chicken Egg Yolk

Biochemical Journal

Molecular Biology

English

Quantitative Determination of Glycosphingolipids in Human Plasma

Clinical Chemistry and Laboratory Medicine

Clinical Biochemistry

English