Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives
Open accessAbstract
Inborn errors of metabolism (IEMs) are rare single-gene disorders involving deficits in synthesis or breakdown of molecules. They frequently manifest as intellectual developmental disorder (IDD) ei...
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References 16 · Cited by 23
Research works printed but not linked: 1
- [5]5. • Comprehensive literature review that identified 81 'treatable IEMs' presenting with IDD as a major feature.
- Authors
- Tarailo-Graovac, M., Wasserman, W. W., & Van Karnebeek, C. D. M.
- Affiliations
- Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia
- University of British Columbia (CA)
- BC Children’s Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada
- ORCID
- Wasserman, Wyeth W.
- Venue
- Expert Review of Molecular Diagnostics
- Publisher
- Informa UK Limited
- Published
- 2017-02-20
- Volume
- 17
- Issue
- 4
- Pages
- 307-309
- ISSN
- 1473-7159 (ISSN-L)
- 1744-8352
- OpenAlex
- W2587156469
- Semantic Scholar
- dc8108cfb9d52e24069e56814492622975819d0b
- Cited by
- 23
- References
- 16
- Citations by year
- 2026: 1 · 2024: 6 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 7 · 2018: 3
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Expert Review of Molecular Diagnostics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Michael Smith Foundation for Health Research (Scholar award)
- The Ministry of Education and Science of the Republic of Serbia (ON173052)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- next-generation sequencing, neurometabolic disorders, inborn errors of metabolism, monogenic disorders, intellectual disability, genetic diagnosis, disease management
- MeSH terms
- Developmental Disabilities, Genetic Testing, Humans, Metabolism, Inborn Errors, Sequence Analysis, DNA, Early Diagnosis
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