Inherited metabolic disorders: a century of evolution

Authors

  • Esmeralda Martins Department of Pediatrics. Centro Hospitalar Universitário do Porto; Coordinator of Center for Hereditary Metabolic Diseases, Centro Materno-Infantil do Porto, Centro Hospitalar Universitário do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v29.i3.20653

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References

Advances in inborn errors of metabolism Toshiyuki Fukao, Kimitoshi Nakamura. Journal of Human Genetics. 2019; 64:65.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. A proposed nosology of inborn errors of metabolism. Genet Med. 2019; 21:102–6.

Georgianne A L. Inborn errors of metabolism in the 21st century: past to present. Ann Transl Med 2018; 6:467.

Hilary J. Vernon. Inborn Errors of Metabolism Advances in Diagnosis and Therapy. JAMA Pediat. 2015; 169: 778-82.

Ginocchio V, Ferla R, Auricchio A, Brunetti-Pierri Ni. Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism. Hum Gene Ther 2019; 30:1204-10.

Morava E , Kozicz T, Wallace D. The Phenotype Modifier: Is the Mitochondrial DNA Background Responsible for Individual Differences in Disease Severity. J Inherit Metab Dis 2019; 42:3-4.

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Published

2020-08-04

How to Cite

1.
Martins E. Inherited metabolic disorders: a century of evolution. REVNEC [Internet]. 2020Aug.4 [cited 2024Feb.24];29(3):126-7. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/20653

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Editorial

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