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Journal Abstract Search

160 related items for PubMed ID: 16684290

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  • 4. Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
    Iskeleli G, Bilgeç MD, Arici C, Atalay E, Oğreden T, Aydin A.
    Turk J Pediatr; 2011; 53(6):692-4. PubMed ID: 22389994
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  • 5. Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
    al-Essa MA, Rashed MS, Ozand PT.
    East Mediterr Health J; 1999 Nov; 5(6):1204-7. PubMed ID: 11924112
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  • 9. [Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].
    Bygum A, Brandrup F, Gade EF, Lund AM, Christensen E.
    Ugeskr Laeger; 2008 Feb 18; 170(8):655. PubMed ID: 18364160
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  • 10. Richner-Hanhart syndrome detected by expanded newborn screening.
    Meissner T, Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E.
    Pediatr Dermatol; 2008 Feb 18; 25(3):378-80. PubMed ID: 18577048
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  • 11. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
    Soares DC, Stroparo MN, Lian YC, Takakura CY, Wolf S, Betz R, Kim CA.
    J Inherit Metab Dis; 2017 May 18; 40(3):461-462. PubMed ID: 27832414
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  • 13. Tyrosinemia type II: nine cases of ocular signs and symptoms.
    Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
    Am J Ophthalmol; 2001 Oct 18; 132(4):522-7. PubMed ID: 11589874
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  • 15. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
    Maydan G, Andresen BS, Madsen PP, Zeigler M, Raas-Rothschild A, Zlotogorski A, Gutman A, Korman SH.
    J Inherit Metab Dis; 2006 Oct 18; 29(5):620-6. PubMed ID: 16917729
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  • 16. The genetic tyrosinemias.
    Scott CR.
    Am J Med Genet C Semin Med Genet; 2006 May 15; 142C(2):121-6. PubMed ID: 16602095
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  • 17. [Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)].
    Larrègue M, De Giacomoni P, Odièvre P, Prigent F.
    Ann Dermatol Venereol; 1980 May 15; 107(11):1023-30. PubMed ID: 7235483
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  • 18. Two siblings with tyrosinaemia type 2.
    Aydin OF, Zorlu P, Kunak B, Tezic T, Eken A.
    Eur J Pediatr; 2003 Feb 15; 162(2):81-3. PubMed ID: 12548382
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  • 19. Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
    Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S.
    Gene; 2013 Oct 15; 529(1):45-9. PubMed ID: 23954227
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  • 20. Unusual dendritic keratitis.
    Gokhale NS, Dherai AJ, Desai H, Ashavaid TF.
    Indian J Ophthalmol; 2007 Oct 15; 55(1):57-9. PubMed ID: 17189889
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