Literature DB >> 8531042

Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.

G T Lueder1, R D Steiner.   

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Year:  1995        PMID： 8531042     DOI： 10.3928/0191-3913-19950901-16

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


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  4 in total

Review 1.  The eye as a window to inborn errors of metabolism.

Authors:  B T Poll-The; L J Maillette de Buy Wenniger-Prick; P G Barth; M Duran
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

2.  Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.

Authors:  Jiangang Zhao; Yao An; Haoxiang Jiang; Haibin Wu; Fengyu Che; Ying Yang
Journal:  Front Genet       Date:  2021-05-07       Impact factor: 4.599

3.  A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Authors:  Marianna Alagia; Gerarda Cappuccio; Michele Pinelli; Annalaura Torella; Raffaella Brunetti-Pierri; Francesca Simonelli; Giuseppe Limongelli; Guido Oppido; Vincenzo Nigro; Nicola Brunetti-Pierri
Journal:  Am J Med Genet A       Date:  2017-12-12       Impact factor: 2.802

4.  Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency - a case report and literature review.

Authors:  Andreea M Pavel; Carol M Stephens; Sean R Mathieson; Brian H Walsh; Brian McNamara; Niamh McSweeney; Geraldine B Boylan
Journal:  HRB Open Res       Date:  2021-11-23
  4 in total

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