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Last Updated: 10/31/2025

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Found 2640 publications

Neuromuscular diseases in pediatrics with specific treatments

Neuromuscular diseases in pediatrics with specific treatments

Journal: Medicina
Published: October 02, 2025

Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.

Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.

Journal: DNA and cell biology reports
Published: September 19, 2025

In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy.

In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy.

Journal: Cureus
Published: September 17, 2025

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Journal: Journal of medicinal chemistry
Published: September 15, 2025

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.

Journal: Future science OA
Published: September 15, 2025

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.

Journal: Molecular genetics and metabolism
Published: September 10, 2025

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

Journal: Journal of medical economics
Published: September 04, 2025

Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.

Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.

Journal: Journal of neurology
Published: July 31, 2025

Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions.

Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions.

Journal: Journal of neurology
Published: July 29, 2025

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Journal: Journal of neuropathology and experimental neurology
Published: July 27, 2025

Therapeutic Acute Intermittent Hypoxia Modestly Improves Breathing in Pompe Disease.

Therapeutic Acute Intermittent Hypoxia Modestly Improves Breathing in Pompe Disease.

Journal: Respiratory physiology & neurobiology
Published: July 25, 2025

Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (Coturnix japonica).

Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (Coturnix japonica).

Journal: Genes
Published: July 25, 2025
Showing 1-12 of 2,640

Last Updated: 10/31/2025