A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
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Glycogen-Storage Disease Type II
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Fucosidosis Revisited:A Review of 77 Patients
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Nervous System Involvement in Fabry's Disease:Clinicopath & Biochemical Correlation
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Pes Cavus and Neuropathy
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Mucolipidosis Type IV; Characteristic MRI Findings
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