Congenital Cytomegalovirus Infection
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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Sturge-Weber Syndrome
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Phenylketonuria
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Glycogen-Storage Disease Type II
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Cranial MR Imaging in Hypomelanosis of Ito
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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