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publicationName Journal of Inherited Metabolic Disease
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bibliographicCitation Al-Dirbashi OY, Abu-Amero KK, Alswaid AF, Hoffmann GF, Al-Qahtani K, Rashed MS. LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. J Inherit Metab Dis. 2007 Aug;30(4):611. doi: 10.1007/s10545-007-0670-3. PMID: 17701443.
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title LC‐MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice‐acceptor site mutation in the SLC7A9 gene
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