# Alberto Burlina

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/alberto-burlina/

## Facts

| Field | Value |
| --- | --- |
| Citations | 16,502 |
| Field | Metabolism and Genetic Disorders |
| h-index | 64 |
| i10-index | 221 |
| OpenAlex ID | https://openalex.org/A5052556691 |
| ORCID iD | https://orcid.org/0000-0001-7724-137X |
| Works | 359 |

## Researcher papers

- [Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia](https://scholariq.org/papers/proposed-guidelines-for-the-diagnosis-and-management-of-methylmalonic-and/)
- [Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>](https://scholariq.org/papers/characterization-of-human-disease-phenotypes-associated-with-mutations-in-i/)
- [The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation](https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-1-the/)
- [The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype](https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-2-the/)

## Researcher topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Folate and B Vitamins Research](https://scholariq.org/topics/folate-and-b-vitamins-research/)
- [Amino Acid Enzymes and Metabolism](https://scholariq.org/topics/amino-acid-enzymes-and-metabolism/)

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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.