Abstract
Danny is the father of two boys with MEPAN syndrome and a member of Global Genes' RARE Foundation Alliance Leadership Council.
Copyright © 2021.
MeSH terms
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Genetic Diseases, Inborn / diagnosis*
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Genetic Diseases, Inborn / genetics
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Genetic Research
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Genetic Testing
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Heredodegenerative Disorders, Nervous System / diagnosis*
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Heredodegenerative Disorders, Nervous System / genetics
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Humans
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Information Dissemination
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Male
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Oxidoreductases Acting on CH-CH Group Donors / genetics*
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Rare Diseases / diagnosis*
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Rare Diseases / genetics
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Syndrome
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Whole Genome Sequencing
Substances
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Oxidoreductases Acting on CH-CH Group Donors
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trans-2-enoyl-CoA reductase (NADPH)