Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A
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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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IJMS, Free Full-Text
Diagnosing ASMD (non-CNS manifestations)
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Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C - ScienceDirect
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PDF) Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: A 5-year update from the UK clinical database
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Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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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
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Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals - Genetics in Medicine
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Niemann–Pick disease - Wikipedia
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PDF) Niemann- Pick disease type B. Study of three cases and literature revision
N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
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PDF) Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature
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PDF) Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
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