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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Molybdenum Cofactor Deficiency
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Cystic Fibrosis Presenting With Intracerebral Haemorrhage
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Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
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Prader-Willi and Angelman Syndromes
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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