Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A

The 600 recessive disorders detected by the Genetic Compatibility Test (GCT)

PDF) Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

Miglustat - Wikipedia

Diagnosing ASMD (non-CNS manifestations)

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II

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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

Niemann-Pick disease type C as a neurovisceral disease. Schematic

Niemann Pick Disease - an overview

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