Literature DB >> 17088329

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.

M Fleury, R Barbier, F Ziegler, M Mohr, O Caron, H Dollfus, C Tranchant, J M Warter.   

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Year:  2006        PMID： 17088329      PMCID： PMC2077941          DOI： 10.1136/jnnp.2006.101386

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.

Authors:  T Wang; G Steel; A H Milam; D Valle
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  Ocular clinicopathologic study of gyrate atrophy.

Authors:  D J Wilson; R G Weleber; W R Green
Journal:  Am J Ophthalmol       Date:  1991-01-15       Impact factor: 5.258

3.  Systemic manifestations of gyrate atrophy of the choroid and retina.

Authors:  M I Kaiser-Kupfer; T Kuwabara; V Askanas; L Brody; K Takki; I Dvoretzky; W K Engel
Journal:  Ophthalmology       Date:  1981-04       Impact factor: 12.079

4.  Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

Authors:  Muriel I Kaiser-Kupfer; Rafael C Caruso; David Valle
Journal:  Arch Ophthalmol       Date:  2002-02

5.  Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Authors:  L C Brody; G A Mitchell; C Obie; J Michaud; G Steel; G Fontaine; M F Robert; I Sipila; M Kaiser-Kupfer; D Valle
Journal:  J Biol Chem       Date:  1992-02-15       Impact factor: 5.157
  5 in total
  2 in total

1.  Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Authors:  Xuan Cui; Ruben Jauregui; Karen Sophia Park; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2018-05-14       Impact factor: 1.803

2.  A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy.

Authors:  Aneta Kaczmarczyk; Mark Baker; Julianna Diddle; Tatiana Yuzyuk; David Valle; Kristin Lindstrom
Journal:  Mol Genet Metab Rep       Date:  2022-03-16
  2 in total

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