Miglustat

Last Updated: 09/26/2026

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Found 461 publications

Revisiting the Association of Central Precocious Puberty with Neurovisceral Diseases owing to a Girl with Niemann-Pick Disease Type C.

Revisiting the Association of Central Precocious Puberty with Neurovisceral Diseases owing to a Girl with Niemann-Pick Disease Type C.

Journal: Journal of clinical research in pediatric endocrinology

Published: August 19, 2026

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.

Journal: Journal of comparative effectiveness research

Published: July 15, 2026

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Journal: Neuropediatrics

Published: July 08, 2026

From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C.

From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C.

Journal: Cureus

Published: June 12, 2026

Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report.

Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report.

Journal: Medicine

Published: May 29, 2026

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Journal: International journal of molecular sciences

Published: May 20, 2026

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Journal: Orphanet journal of rare diseases

Published: May 18, 2026

Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.

Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.

Journal: Orphanet journal of rare diseases

Published: May 11, 2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Journal: Research square

Published: April 29, 2026

Off-Target Binding of Miglustat to Glycogen Debranching Enzyme.

Off-Target Binding of Miglustat to Glycogen Debranching Enzyme.

Journal: International journal of molecular sciences

Published: April 23, 2026

Current and emerging therapeutic advancements for Niemann-Pick disease type C: where are we now and what does the future hold?

Current and emerging therapeutic advancements for Niemann-Pick disease type C: where are we now and what does the future hold?

Journal: Expert review of neurotherapeutics

Published: April 20, 2026

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Journal: Neurocase

Published: April 14, 2026

Showing 1-12 of 461

Last Updated: 09/26/2026