Literature DB >> 32235217

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Elizabeth R Kellom1, Barry Wolf, Gregory M Rice, Kimberly E Stepien.   

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Year:  2021        PMID： 32235217     DOI： 10.1097/WNO.0000000000000933

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  1 in total

1.  Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.

Authors:  Elizabeth Kellom; Kimberly Stepien; Gregory Rice; Barry Wolf
Journal:  Mol Genet Metab Rep       Date:  2020-12-15
  1 in total

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