The eye as a window to inborn errors of metabolism

Author:

Poll-The B. T.1,Maillette De Buy Wenniger-Prick L. J.2,Barth P. G.1,Duran M.1

Affiliation:

1. Department of Pediatrics/Emma Children's; Hospital and Laboratory of Genetic Metabolic Diseases; Netherland

2. ; Department of Ophthalmology; Academic Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. A mouse model of galactose-induced cataracts;Ai;Hum Mol Genet,2000

2. Energy metabolism of rabbit retina as related to function: high cost of sodium transport;Ames;J Neurosci,1992

3. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews;Anikster;Am J Hum Genet,2001

4. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies;Carelli;Neurochem Int,2002

5. Cholesterol and cataracts;Cenedella;Surv Ophthalmol,1996

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