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Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets
Tyrosinemia is an inherited metabolic disease of fumarylacetoacetate enzyme. A male infant presented to us with clinical features of rickets, floppiness, and a deranged coagulation profile. A novel mutation causing Tyrosinemia was discovered on the basis of genetic sequencing.
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158334/ https://www.ncbi.nlm.nih.gov/pubmed/37168897 http://dx.doi.org/10.1097/PG9.0000000000000176 |