Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditio...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wiley
2026-03-01
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| Serie: | JIMD Reports |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1002/jmd2.70078 |
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