Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Niemann-Pick Type C Disease
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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Pes Cavus and Neuropathy
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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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"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Glycogen-Storage Disease Type II
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Genetic Diagnosis of Gaucher's Disease
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
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