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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'...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| 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 |