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...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2026-03-01
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| シリーズ: | BMC Pediatrics |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s12887-026-06690-0 |
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