No abstract available
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Cardiomyopathies / diagnosis*
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Cardiomyopathies / genetics
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Carnitine / deficiency*
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Carnitine / genetics
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DNA Mutational Analysis
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Diagnosis, Differential
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Female
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Humans
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Hyperammonemia / diagnosis*
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Hyperammonemia / genetics
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Infant, Newborn
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Male
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Molecular Diagnostic Techniques
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Muscular Diseases / diagnosis*
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Muscular Diseases / genetics
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Mutation, Missense
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Neonatal Screening
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Organic Cation Transport Proteins / genetics
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Pedigree
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Polymorphism, Restriction Fragment Length
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Solute Carrier Family 22 Member 5
Substances
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Organic Cation Transport Proteins
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SLC22A5 protein, human
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Solute Carrier Family 22 Member 5
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Carnitine
Supplementary concepts
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Systemic carnitine deficiency