オルニチン血症
English Journal
- OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
- Katagiri S1, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H.
- Documenta ophthalmologica. Advances in ophthalmology.Doc Ophthalmol.2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1. Epub 2014 Jan 16.
- BACKGROUND: Gyrate atrophy (GA) of the choroid and retina is an extremely rare inherited chorioretinal dystrophy. Ornithine aminotransferase (OAT) gene mutations are identified in patients with GA. The purpose of this study was to report a novel deletion mutation of the OAT gene and describe clinica
- PMID 24429551
- The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.
- Cellini B1, Montioli R2, Oppici E2, Astegno A3, Voltattorni CB2.
- Clinical biochemistry.Clin Biochem.2014 Feb;47(3):158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16.
- The biologically active form of the B6 vitamers is pyridoxal 5'-phosphate (PLP), which plays a coenzymatic role in several distinct enzymatic activities ranging from the synthesis, interconversion and degradation of amino acids to the replenishment of one-carbon units, synthesis and degradation of b
- PMID 24355692
- Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.
- Moloney TP1, O'Hagan S1, Lee L2.
- Clinical ophthalmology (Auckland, N.Z.).Clin Ophthalmol.2014 Aug 20;8:1561-3. doi: 10.2147/OPTH.S64248. eCollection 2014.
- Gyrate atrophy of the choroid and retina is a rare chorioretinal dystrophy inherited in an autosomal recessive pattern. We describe the first documented case of gyrate atrophy from Australia in a 56-year-old woman with a history of previous diagnosis of retinitis pigmentosa and worsening night visio
- PMID 25187693
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