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1. ファロー四徴症のマネージメントの概要 overview of the management of tetralogy of fallot
2. ER／PR陰性、HER2陰性（トリプルネガティブ）乳癌の疫学、危険因子および
臨床的アプローチ epidemiology risk factors and the clinical approach to er pr negative her2 negative triple negative breast cancer
3. 早期興奮症候群における副伝導路の解剖学、病態生理、および局在 anatomy pathophysiology and localization of accessory pathways in the preexcitation syndrome
4. ラウン・ギャノン・レバイン症候群および房室結節促進伝導 lown ganong levine syndrome and enhanced atrioventricular nodal conduction
5. 心膜炎および心嚢液貯留における心電図 electrocardiogram in pericarditis and pericardial effusion

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Gandía M1, Fernández-Toral J2, Solanellas J3, Domínguez-Ruiz M1, Gómez-Rosas E1, Del Castillo FJ1, Villamar M1, Moreno-Pelayo MA1, Del Castillo I1.
Pediatric research.Pediatr Res.2015 Mar 18. doi: 10.1038/pr.2015.56. [Epub ahead of print]
BACKGROUND: PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis. Different missense mutations in PRPS1 cause a variety of disorders that include PRS-I superactivity, nonsyndromic sensorineural hearing impairment, Charcot-Marie-Tooth dise
PMID 25785835

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Liu XZ1, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D.
International journal of audiology.Int J Audiol.2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28.
OBJECTIVE: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function.DESIGN: A literature search of peer-reviewed, published journal articles was conducted in online bibliographic
PMID 23190330

Wild-type and feedback-resistant phosphoribosyl pyrophosphate synthetases from Bacillus amyloliquefaciens: purification, characterization, and application to increase purine nucleoside production.

Zakataeva NP1, Romanenkov DV, Skripnikova VS, Vitushkina MV, Livshits VA, Kivero AD, Novikova AE.
Applied microbiology and biotechnology.Appl Microbiol Biotechnol.2012 Mar;93(5):2023-33. doi: 10.1007/s00253-011-3687-3. Epub 2011 Nov 15.
Bacillus strains are used for the industrial production of the purine nucleosides inosine and guanosine, which are raw materials for the synthesis of the flavor enhancers disodium inosinate and disodium guanylate. An important precursor of purine nucleosides is 5-phospho-α-D: -ribosyl-1-pyrophospha
PMID 22083279