Glycogen-Storage Disease Type II
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
MR Brain Imaging of Fucosidosis Type I
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Mucolipidosis Type IV; Characteristic MRI Findings
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