专题：Glycogen Storage Diseases and Myoclonus

This cluster of papers focuses on the metabolism of glycogen, particularly in the context of myoclonic disorders such as progressive myoclonus epilepsy and glycogen storage diseases. It explores genetic mutations, neurodegeneration, and the role of the glucose-6-phosphatase system in these conditions, shedding light on diagnosis, management, and potential therapeutic aspects.
最新文献
Editorial: Decoding Gut Failure in Cirrhosis: Villin‐1 and the Emergence of a Seventh Organ Failure

article Full Text OpenAlex

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II

article Full Text OpenAlex

Ceftazidime–avibactam-associated encephalopathy in a patient with cirrhosis and end-stage renal disease: A case of negative myoclonus-like movement and literature analysis

article Full Text OpenAlex

Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT

article Full Text OpenAlex

Classical and Modified Ketogenic Diets for Children and Young People With Drug‐Resistant Epilepsy: A Reflection of International Dietetic Practice and Best Practice Recommendations for Dietitians

article Full Text OpenAlex

Mucopolysaccharidoses—What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview

review Full Text OpenAlex

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

article Full Text OpenAlex

Treatment of Neck Hyperhidrosis With Botulinum Toxin Type A: A Prospective, Observational Study

article Full Text OpenAlex

TOWARDS DEVELOPMENT OF TARGETED THERAPEUTICS FOR CHRONIC PAIN IN IBD: ANALGESIC EFFICACY OF AN ORAL GCPII INHIBITOR IN PRECLINICAL VISCERAL PAIN MODELS

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Celiac Plexus and Thoracic Splanchnic Neural Structures

book-chapter Full Text OpenAlex

近5年高被引文献
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

review Full Text OpenAlex 120 FWCI20.035881

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

review Full Text OpenAlex 112 FWCI20.10359331

HOIL‐1 ubiquitin ligase activity targets unbranched glucosaccharides and is required to prevent polyglucosan accumulation

article Full Text OpenAlex 112 FWCI13.41453822

Metformin, phenformin, and galegine inhibit complex IV activity and reduce glycerol-derived gluconeogenesis

article Full Text OpenAlex 85 FWCI10.21474011

Trial of N -Acetyl- l -Leucine in Niemann–Pick Disease Type C

article Full Text OpenAlex 80 FWCI58.99259346

Origin and Roles of Alanine and Glutamine in Gluconeogenesis in the Liver, Kidneys, and Small Intestine under Physiological and Pathological Conditions

review Full Text OpenAlex 75 FWCI56.72364756

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

article Full Text OpenAlex 75 FWCI10.58672668

The clinical and electrophysiological investigation of tremor

review Full Text OpenAlex 75 FWCI12.56487453

Glycogen storage diseases

review Full Text OpenAlex 71 FWCI28.3158367

Alpha-Lipoic Acid and Glucose Metabolism: A Comprehensive Update on Biochemical and Therapeutic Features

review Full Text OpenAlex 68 FWCI12.91996799