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Metabolism and Genetic Disorders

Metabolism and Genetic Disorders is a research topic within Clinical Biochemistry. Science Explorer counts 85k research works in it since 1950. 10.0% of them reached the world's top 10% most cited for their field and year.

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.

  • Metabolic Disorders
  • Biochemical Genetics
  • Newborn Screening
  • Mitochondrial Function
  • Carnitine
  • Phenylketonuria
  • Tandem Mass Spectrometry
  • Inborn Errors of Metabolism
  • Tyrosine Hydroxylase
  • Tetrahydrobiopterin
Research works
85k
fractional, since 1950
In the world top 10%
8.5k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+4%
the tick is no change
Largest producer
United States
36% of the 10 largest, 2022-now
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