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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Overview of Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Cognitive Function and Academic Performance in Neurofibromatosis 1:North
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Bilirubin Metabolism and Kernicterus
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MRI of White Matter Changes in the Sjogren-Larsson Syndrome
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Twinning and Neurologic Morbisity
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Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
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Fucosidosis Revisited:A Review of 77 Patients
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Neurologic Status and Intracranial Hemorrhage in Very-Low-Birth Weight Preterm Infants
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Alexander's Disease, A Disease of Astrocytes
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
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Glycine Encephalopathy
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Neuropathology of Sanfilippo Syndrome
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