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. 14.4% 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%
- 12k per year above
- Top-10% rate
- 14.4% share of its works in the world top 10%
- Growth, 2013–17 → 2018–22
- +6% the tick is no change
Which countries lead Metabolism and Genetic Disorders research?
By volume, the United States and China publish the most (1.8k and 964 works in 2022–2025).
By volume, 2022–2025
- 1 United States 1.8k works
- 2 China 964 works
- 3 India 441 works
- 4 Germany 344 works
- 5 Japan 325 works
- 6 United Kingdom 313 works
- 7 Italy 273 works
- 8 Türkiye 218 works
- 9 France 203 works
- 10 Spain 183 works
How concentrated that is
The same countries as shares of everything the list above accounts for. A node where two countries do two thirds of the work and one spread evenly across twelve read alike as a ranking and not at all alike here.
Shares of the rows listed above, not of the whole node.
Which institutions lead Metabolism and Genetic Disorders research?
By volume in 2022–2025, University of North Carolina at Chapel Hill publishes the most Metabolism and Genetic Disorders research, followed by University College London and Harvard University.
By volume, 2022–2025
- 1 University of North Carolina at Chapel HillUnited States 27 works
- 2 University College LondonUnited Kingdom 24 works
- 3 Harvard UniversityUnited States 21 works
- 4 Children's Hospital of PhiladelphiaUnited States 19 works
- 5 The University of Texas Southwestern Medical CenterUnited States 19 works
- 6 Emory UniversityUnited States 19 works
- 7 Johns Hopkins UniversityUnited States 18 works
- 8 University of PennsylvaniaUnited States 18 works
- 9 Baylor College of MedicineUnited States 17 works
- 10 Capital Medical UniversityChina 17 works
Who are the leading researchers in Metabolism and Genetic Disorders?
The most-cited researchers publishing on Metabolism and Genetic Disorders include Mark J. Daly, Cyrus Cooper and Vamsi K. Mootha.
- 1 Mark J. Daly United States 9.6k citations
- 2 Cyrus Cooper United Kingdom 7.2k citations
- 3 Vamsi K. Mootha United States 6.9k citations
- 4 Winfried März Germany 5.2k citations
Ranked by citations received across their whole record, among researchers with at least three works on this topic.
Where is Metabolism and Genetic Disorders research done?
The largest centres of Metabolism and Genetic Disorders research in 2022–2025 are Beijing (China), London (United Kingdom), Tokyo (Japan) and Shanghai (China). Among places with at least 20 works in it, it is an unusually large share of all research in Nijmegen.
Largest cities, 2022–2025
Where it is the local speciality
- NijmegenNL · 20.5 works4.4×
Location quotient: how much more of its research is in Metabolism and Genetic Disorders than the world average.
Where is the best place to study Metabolism and Genetic Disorders?
Among universities, judged by research, University College London, Harvard University and Capital Medical University score highest, combining excellence, specialisation, size, growth and international reach. Research strength is one signal when choosing where to study; it does not measure teaching.
One dot per university in the table below. The upper left is the interesting corner: small places doing unusually strong work.
| # | University | Score | Top 10% | Specialisation | Works | Growth |
|---|---|---|---|---|---|---|
| 1 | University College LondonUnited Kingdom | 57.2 | 22.7% | 2.4× | 24 | -2.9% |
| 2 | Harvard UniversityUnited States | 52.3 | 19.0% | 2.3× | 21 | +46.9% |
| 3 | Capital Medical UniversityChina | 51.4 | 13.2% | 4.1× | 17 | +181.7% |
| 4 | Charles UniversityCzechia | 49.7 | 27.4% | 3.4× | 11 | -16.0% |
| 5 | Icahn School of Medicine at Mount SinaiUnited States | 49.5 | 9.7% | 4.8× | 17 | +156.1% |
| 6 | University of CambridgeUnited Kingdom | 47.9 | 25.6% | 1.3× | 10 | +74.5% |
| 7 | Karolinska InstitutetSweden | 46.2 | 21.8% | 3.0× | 9 | +12.4% |
| 8 | Stanford UniversityUnited States | 45.4 | 26.7% | 1.5× | 12 | +8.7% |
| 9 | University of PaduaItaly | 45.1 | 19.9% | 2.6× | 15 | +15.5% |
| 10 | Baylor College of MedicineUnited States | 44.9 | 13.1% | 6.0× | 17 | -7.5% |
Universities only. Score blends excellence (30%), specialisation (25%), size (20%), growth (15%) and international reach (10%), 2015–2022; growth compares 2010–14 with 2015–19.
Is Metabolism and Genetic Disorders research growing?
Output in 2018–2022 was 6% higher than in 2013–2017, peaking in 2024. The fastest-growing topics are Metabolism and Genetic Disorders.
The same series as a ribbon — one cell per year, darker for more. The line above answers how much; this answers when.
Which topics inside it are moving
Growth and decline on one axis around a shared zero. Two lists side by side hide the thing that matters: whether the growth dwarfs the decline, or the other way round.