No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Metabolism, Inborn Errors / diagnosis*
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Amino Acid Metabolism, Inborn Errors / genetics
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Amino Acid Metabolism, Inborn Errors / therapy
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Death, Sudden / etiology
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Hereditary Central Nervous System Demyelinating Diseases / diagnosis
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Hereditary Central Nervous System Demyelinating Diseases / etiology
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Humans
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Hydroxymethylglutaryl-CoA Synthase / deficiency*
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Infant, Newborn
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Male
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Mutation
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Oxo-Acid-Lyases / genetics*
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Spectrometry, Mass, Electrospray Ionization
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Tandem Mass Spectrometry
Substances
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Hydroxymethylglutaryl-CoA Synthase
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Oxo-Acid-Lyases
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3-hydroxy-3-methylglutaryl-coenzyme A lyase