Life Sciences → Biochemistry, Genetics and Molecular Biology → Clinical Biochemistry
Metabolism and Genetic Disorders
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.
196.6K works worldwide2.1M citations
Metabolic DisordersBiochemical GeneticsNewborn ScreeningMitochondrial FunctionCarnitinePhenylketonuriaTandem Mass SpectrometryInborn Errors of MetabolismTyrosine HydroxylaseTetrahydrobiopterin
Journals publishing in this area
26
Journal of Pharmacology and Experimental Therapeutics
324h-index
0.94Impact
39.4KArticles
1.5MCitations
44
American Journal of Physiology-Endocrinology and Metabolism
278h-index
2.92Impact
12.2KArticles
708.4KCitations





