Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a long chain fatty acid oxidation disorder, typically presenting with hypoketotic hypoglycaemia and liver dysfunction during fasting and intercurrent illness. Classical CPT1A deficiency is a rare disease, although a milder ‘Arctic variant'...

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Detalles Bibliográficos
Autores principales: Bernhardt, Isaac, Glamuzina, Emma, Dowsett, Leah K., Webster, Dianne, Knoll, Detlef, Carpenter, Kevin, Bennett, Michael J., Maeda, Michelle, Wilson, Callum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259392/
https://www.ncbi.nlm.nih.gov/pubmed/35822099
http://dx.doi.org/10.1002/jmd2.12271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259392/
https://www.ncbi.nlm.nih.gov/pubmed/35822099
http://dx.doi.org/10.1002/jmd2.12271

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