Natural history of alkaptonuria revisited: Analyses based on scoring systems

Journal of Inherited Metabolic Disease

Volumn 34, Issue 6, 2011, Pages 1141-1151

  Ranganath, Lakshminarayan R ^a   Cox, Trevor F ^b  

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALKAPTONURIA; ARTHRALGIA; CARDIOVASCULAR RISK; CLINICAL ARTICLE; CLINICAL ASSESSMENT TOOL; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; EAR DISEASE; EYE DISEASE; FEMALE; HUMAN; MALE; MEDICAL HISTORY; OCHRONOSIS; QUANTITATIVE ANALYSIS; QUESTIONNAIRE; REVIEW; RISK FACTOR; SCORING SYSTEM; SEX DIFFERENCE; SPINAL PAIN; VALIDATION PROCESS;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALKAPTONURIA; ARTHRALGIA; ARTHRITIS; CARTILAGE, ARTICULAR; CAUSALITY; COHORT STUDIES; COMORBIDITY; CYCLOHEXANONES; DISEASE PROGRESSION; FEMALE; HOMOGENTISATE 1,2-DIOXYGENASE; HOMOGENTISIC ACID; HUMANS; MALE; MIDDLE AGED; NITROBENZOATES; OCHRONOSIS; PAIN; QUESTIONNAIRES;

EID: 82955203212     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9374-9     Document Type: Review

References (11)

1. M Beck 2006 The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease Acta Paediatr Suppl 451 43 46 10.1080/08035320600618825 (Pubitemid 43739094)
2. Cox TF, Ranganath LR (2011) A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems. JIMD (in press)
3. JM Fernandez-Canon B Granadino D Beltran-Valero de Bernabe, et al. 1996 The molecular basis of alkaptonuria Nat Genet 14 19 24 8782815 10.1038/ng0996-19 1:CAS:528:DyaK28Xls1SqtL4%3D (Pubitemid 26301542)
4. RJ Goodfellow J Schwartz F Leya 2005 Black aorta: a rare finding at aortic valve replacement J Invasive Cardiol 17 165 167 15867448 (Pubitemid 41724706)
5. OA Grigg VT Farewell DJ Spiegelhalter 2003 Use of risk-adjusted CUSUM and RSPRT charts for monitoring in medical contexts Stat Methods Med Res 12 147 170 12665208 1:STN:280:DC%2BD3s7kvVOktQ%3D%3D (Pubitemid 36347833)
6. TR Helliwell JA Gallagher L Ranganath 2008 Alkaptonuria - a review of surgical and autopsy pathology Histopathol 53 503 512 1:STN:280: DC%2BD1cjhsFChtg%3D%3D
7. LaDu BN (2001) Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B (eds) The metabolic and molecular basis of inherited disease, vol. 2, 8th edn. McGraw-Hill, New York, pp 2109-2123
8. WM O'Brien BN La Du JJ Bunim 1963 Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962) Am J Med 34 813 838 10.1016/0002-9343(63)90089-5
9. C Phornphutkul WJ Introne MB Perry, et al. 2002 Natural history of alkaptonuria N Engl J Med 347 2111 2121 12501223 10.1056/NEJMoa021736 1:CAS:528:DC%2BD3sXhslGn (Pubitemid 36015123)
10. P Suwannarat K O'Brien MB Perry N Sebring I Bernardini MI Kaiser-Kupfer BI Rubin E Tsilou LH Gerber WA Gahl 2005 Use of nitisinone in patients with alkaptonuria Metab Clin Exp 54 719 728 15931605 10.1016/j.metabol.2004.12.017 1:CAS:528:DC%2BD2MXks1eisb0%3D (Pubitemid 40725319)
11. A Wilke D Steverding 2009 Ochronosis as an unusual cause of valvular defect: a case report J Med Case Rep 3 9302 10.1186/1752-1947-3-9302