Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I
Abstract Background Tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH), an enzyme essential for the final breakdown of tyrosine. The enzyme defect leads to accumulation of toxic metabolites, primarily affecting the...
Gorde:
| Egile Nagusiak: | , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2026-03-01
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| Saila: | BMC Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s12887-026-06690-0 |
| Etiketak: |
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