Whole Genome Sequencing in the Neonatal Intensive Care Unit

2018-10-31 14:49:19 | BioPortfolio

Published on BioPortfolio: 2018-10-31T14:49:19-0400

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Medical and Biotech [MESH] Definitions

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.

Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.

Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.

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