Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

Skaricic, Ana; Zekusic, Marija; Fumic, Ksenija; Rogic, Dunja; Uroic, Valentina; Petkovic Ramadza, Danijela; Zigman, Tamara; Baric, Ivo

Skaricic, Ana; Zekusic, Marija; Fumic, Ksenija; Rogic, Dunja; Uroic, Valentina; Petkovic Ramadza, Danijela; Zigman, Tamara; Baric, Ivo.

Afiliación

Skaricic A; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Zekusic M; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Fumic K; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Rogic D; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Uroic V; Department of Nutrition and Dietetics, University Hospital Center Zagreb, Zagreb, Croatia.
Petkovic Ramadza D; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
Zigman T; University of Zagreb, School of Medicine, Zagreb, Croatia.
Baric I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

Clin Mass Spectrom ; 12: 1-6, 2019 Apr.

Article en En | MEDLINE | ID: mdl-34841073

Palabras clave

BSTFA+1%TCMS, N,O-Bis (trimethylsilyl)trifluoroacetamide with 1% trimethylchlorosilane 99:1; CE, collision energy; CXP, collision cell exit potential; DBS, dried blood spot; DP, declustering potential; EP, entrance potential; ESI, electrospray ionization; FAA, fumarylacetoacetate; FAH, fumarylacetoacetate hydrolase; GC MS, capillary gas chromatography coupled with mass spectrometry; GS1, nebulizer gas; GS2, heater gas; HCl, hydrochloric acid; LC-MS/MS, tandem mass spectrometry coupled with ultra performance liquid chromatography; MRM, multiple reaction monitoring; NBS, newborn screening; NTBC, 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione; PFBO, O-(2,3,4,5,6-Pentafluorobenzyl)hydroxylamine hydrochloride; Q1, first quadrupole; Q3, third quadrupole; RCF, Relative Centrifugal Force; RP, reverse phase; SUAC, succinylacetone; TIC, Total Ion Chromatogram; TYRSN1, tyrosinemia type 1; Tyr, tyrosine; Tyr_IS, tyrosine internal standard

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Clin Mass Spectrom Año: 2019 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Países Bajos

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