Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopath Conf, Infantile Krabbe Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Neuroimaging Features of Biotinidase Deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Neurological Findings in Aminoacylase 1 Deficiency
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Brain Imaging in Late-Onset CM2 Gangliosidosis
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Late Onset Globoid Cell Leukodystrophy
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
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Neurological Manifestations of Fabry Disease in Female Carriers
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