# Metabolism and Genetic Disorders

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/metabolism-and-genetic-disorders-2/

## Facts

| Field | Value |
| --- | --- |
| Citations | 2,149,969 |
| Description | 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. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | https://openalex.org/T11027 |
| Works | 197,079 |

## Topic researchers

Showing 12 of 20.

- [Mark J. Daly](https://scholariq.org/researchers/mark-j-daly/)
- [Peer Bork](https://scholariq.org/researchers/peer-bork/)
- [Guido Kroemer](https://scholariq.org/researchers/guido-kroemer/)
- [Jun Wang](https://scholariq.org/researchers/jun-wang-11/)
- [Stephan Windecker](https://scholariq.org/researchers/stephan-windecker/)
- [Graeme J. Hankey](https://scholariq.org/researchers/graeme-j-hankey/)
- [Matthias Mann](https://scholariq.org/researchers/matthias-mann/)
- [Gonçalo R. Abecasis](https://scholariq.org/researchers/goncalo-r-abecasis/)
- [Richard A. Gibbs](https://scholariq.org/researchers/richard-a-gibbs/)
- [Luigi Ferrucci](https://scholariq.org/researchers/luigi-ferrucci/)
- [Frank B. Hu](https://scholariq.org/researchers/frank-b-hu/)
- [Josef Coresh](https://scholariq.org/researchers/josef-coresh/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.