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Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations
by
Tay, Stacey K.H.
,
Sacconi, Sabrina
,
Ohran Akman, H.
,
Morales, Judith F.
,
Morales, Augusto
,
De Vivo, Darryl C.
,
Shanske, Sara
,
Bonilla, Eduardo
,
DiMauro, Salvatore
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Journal of child neurology
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Journal Of Child Neurology
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Clinical Neurology
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Cytochrome-C Oxidase Deficiency - Complications
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Cytochrome-C Oxidase Deficiency - Genetics
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Cytochrome-C Oxidase Deficiency - Pathology
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Dna Mutational Analysis
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Female
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Frameshift Mutation
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Humans
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Infant
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Infant, Newborn
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Kidney Diseases - Etiology
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Leigh Disease - Complications
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Leigh Disease - Genetics
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Leigh Disease - Pathology
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Life Sciences & Biomedicine
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Male
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Membrane Proteins
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Mitochondrial Proteins
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Muscle, Skeletal - Pathology
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Neurosciences & Neurology
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