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Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America, Volume 65-2 (Hardcover)
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Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America, Volume 65-2 (Hardcover)
Series: The Clinics: Internal Medicine
Expected to ship within 12 - 19 working days
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The guest editors have compiled expert authors to provide current
updates on the clinical management of inborn errors of metabolism.
Authors have contributed clinical review articles on the following
topics: Inborn errors of metabolism overview: pathophysiology,
manifestations, evaluation, and management; Inborn errors of
metabolism with acidosis: organic acidemias and defects of pyruvate
and ketone body metabolism; Inborn errors of metabolism with
hyperammonemia: urea cycle defects and related disorders; Inborn
errors of metabolism with hypoglycemia: glycogen storage diseases
and gluconeogenesis defects; Inborn errors of metabolism with
myopathy: defects of fatty acid oxidation and carnitine transport;
Inborn errors of metabolism with seizures: defects of glycine and
serine metabolism and co-factor related disorders; Inborn errors of
metabolism with hepatopathy: metabolism defects of galactose,
fructose, and tyrosine; Inborn errors of metabolism with cognitive
impairment: metabolism defects of phenylalanine, homocysteine and
methionine, purine and pyrimidine, and creatine; Inborn errors of
metabolism with movement disorders: defects in metal transport and
neurotransmitter metabolism; Inborn errors of metabolism involving
complex molecules: lysosomal and peroxisomal storage diseases;
Inborn errors of metabolism with complex phenotypes: mitochondrial
disorders and congenital disorders of glycosylation; and Newborn
screening: history, current status, and future directions.
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