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Journal Abstract Search

109 related items for PubMed ID: 11924112

  • 1. 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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  • 2. Oculocutaneous tyrosinaemia or tyrosinaemia type 2: a case report.
    Valikhani M, Akhyani M, Jafari AK, Barzegari M, Toosi S.
    J Eur Acad Dermatol Venereol; 2006 May; 20(5):591-4. PubMed ID: 16684290
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  • 3. Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?
    Daly A, Gokmen-Ozel H, MacDonald A, Preece MA, Davies P, Chakrapani A, McKiernan P.
    J Hum Nutr Diet; 2012 Apr; 25(2):111-6. PubMed ID: 22168396
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  • 4. 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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  • 5. 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 May 15; 25(3):378-80. PubMed ID: 18577048
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  • 6. [Diagnostic error of mental retardation of neurometabolic origin confirmed by mass sequential spectrometry].
    Osorio-Orozco JH, Pourfarzam M.
    Rev Neurol; 2008 May 15; 30(8):728-30. PubMed ID: 10893736
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  • 7. Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings.
    Viglizzo GM, Occella C, Bleidl D, Rongioletti F.
    Pediatr Dermatol; 2006 May 15; 23(3):259-61. PubMed ID: 16780475
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  • 9. Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
    Bärhold F, Meyer U, Neugebauer AK, Thimm EM, Lier D, Rosenbaum-Fabian S, Och U, Fekete A, Möslinger D, Rohde C, Beblo S, Hochuli M, Bogovic N, Korpel V, Dahl SV, Mayorandan S, Fischer A, Freisinger P, Dokoupil K, Heddrich-Ellerbrok M, Jörg-Streller M, van Teeffelen-Heithoff A, Lahl J, Das AM.
    Nutrients; 2020 Dec 31; 13(1):. PubMed ID: 33396520
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  • 10. 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 Dec 31; 53(6):692-4. PubMed ID: 22389994
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  • 12. [Tyrosinemia type II. Case report].
    Benatiya AI, Bouayed MA, Touiza E, Daoudi K, Bhalil S, Elmesbahi I, Tahri H.
    Bull Soc Belge Ophtalmol; 2005 Dec 31; (296):57-61. PubMed ID: 16050420
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  • 14. Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia.
    Wilson CJ, Van Wyk KG, Leonard JV, Clayton PT.
    J Inherit Metab Dis; 2000 Nov 31; 23(7):677-83. PubMed ID: 11117429
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  • 15. Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1.
    De Laet C, Munoz VT, Jaeken J, François B, Carton D, Sokal EM, Dan B, Goyens PJ.
    Dev Med Child Neurol; 2011 Oct 31; 53(10):962-4. PubMed ID: 21745202
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  • 17. The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
    la Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez MR, Donati MA, Zammarchi E.
    Rapid Commun Mass Spectrom; 2008 Oct 31; 22(6):812-8. PubMed ID: 18278819
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  • 19. Outcome of tyrosinaemia type III.
    Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV.
    J Inherit Metab Dis; 2001 Dec 31; 24(8):824-32. PubMed ID: 11916315
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  • 20. Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins.
    Kymionis GD, Kankariya VP, Kontadakis GA, Ziakas NG.
    J Pediatr Ophthalmol Strabismus; 2012 May 08; 49 Online():e33-6. PubMed ID: 22588828
    [Abstract] [Full Text] [Related]

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