Neuroimaging Changes in Menkes Disease, Part 1
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Copper-Histidine Therapy for Menkes Disease
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Myotonic Dystrophy
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Clinical & Biochemical Aspects of Trichopoliodystrophy
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CT Scans in Menkes Disease
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Abnormal Iris Vasculature in Myotonic Dystrophy
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