Works matching Alkaptonuria
Results: 430
Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency -- a case report.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2016, v. 22, n. 2, p. 71, doi. 10.18544/PEDM-22.02.0054
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- Article
A rare disorder in an infant with Goldenhar syndrome and nephrolithiasis: Alkaptonuria.
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- 2016
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- Case Study
Neurological assessment and nerve conduction study findings in 22 patients with alkaptonuria from Jordan.
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- Neurology International, 2016, v. 8, n. 4, p. 84, doi. 10.4081/ni.2016.6841
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- Article
Alkaptonuria: a Presentation of Two Turkish Cases.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2012, v. 34, n. 2, p. 88, doi. 10.5152/etd.2012.22
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- Article
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation.
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- 2018
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- Case Study
A case of alkaptonuria - ultrasonographic findings.
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- Medical Ultrasonography, 2013, v. 15, n. 4, p. 321, doi. 10.11152/mu.2013.2066.154.lod2
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- Article
Impact of chronic kidney disease on the natural history of alkaptonuria.
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- Clinical Kidney Journal, 2012, v. 5, n. 4, p. 352, doi. 10.1093/ckj/sfs079
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- Article
Alkaptonuria - Many questions answered, further challenges beckon.
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- 2020
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- journal article
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
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- Annals of Clinical Biochemistry, 2015, v. 52, n. 5, p. 597, doi. 10.1177/0004563215571969
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- Article
Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.
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- Connecticut Medicine, 2016, v. 80, n. 3, p. 139
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- Article
Nine cases of Alkaptonuria in one family in southern Jordan.
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- Rheumatology International, 2012, v. 32, n. 3, p. 621, doi. 10.1007/s00296-010-1701-1
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- Article
Misdiagnosis of alkaptonuria in an elderly patient.
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- Journal of Research & Practice on the Musculoskeletal System (JRPMS), 2018, v. 2, n. 1, p. 7, doi. 10.22540/JRPMS-02-007
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- Article
Subchondral insufficiency fracture of the femoral head in a patient with alkaptonuria.
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- Skeletal Radiology, 2014, v. 43, n. 6, p. 827, doi. 10.1007/s00256-013-1796-z
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- Article
ALKAPTONURIA DIAGNOSED IN A 72 YEAR OLD FEMALE AFTER TOTAL KNEE REPLACEMENT.
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- BAU Journal - Health & Well-Being, 2023, v. 5, n. 2, p. 1, doi. 10.54729/2789-8288.1193
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- Article
Diagnosis of Alkaptonuria after Lumbar Discectomy: Case Report and a Review of the Literatüre.
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- 2012
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- Case Study
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.
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- Clinical Rheumatology, 2016, v. 35, n. 7, p. 1849, doi. 10.1007/s10067-015-3091-y
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- Article
Endogenous Ochronosis/Alkaptonuria: A Case Report Highlighting the Correlation between Dermoscopy and Histopathology.
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- Indian Journal of Dermatopathology & Diagnostic Dermatology, 2023, v. 10, n. 2, p. 55, doi. 10.4103/ijdpdd.ijdpdd_34_22
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- Article
EARLY-ONSET OCULAR OCHRONOSIS IN A GIRL WITH ALKAPTONURIA (AKU) AND A NOVEL MUTATION IN HOMOGENTISATE 1,2-DIOXYGENASE (HGD).
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- 2011
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- Case Study
Alkaptonuria, more than just a mere disease.
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- 2015
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- Case Study
Anesthetic management of a case of alkaptonuria.
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- 2013
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- Publication type:
- Case Study
Collagenous and elastotic marginal plaques of the hand: A potential clue to the diagnosis of alkaptonuria.
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- Journal of Cutaneous Pathology, 2019, v. 46, n. 1, p. 74, doi. 10.1111/cup.13368
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- Article
Endogenous ochronosis in dermal melanocytic nevi: diagnosis of alkaptonuria by skin biopsy.
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- Journal of Cutaneous Pathology, 2014, v. 41, n. 12, p. 897, doi. 10.1111/cup.12460
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- Article
Anaesthetic management of a case of alkaptonuria for total knee arthroplasty.
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- 2015
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- Publication type:
- Case Study
Fatal oxidative haemolysis and methaemoglobinaemia in a patient with alkaptonuria and acute kidney injury.
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- Clinical Kidney Journal, 2015, v. 8, n. 1, p. 109, doi. 10.1093/ckj/sfu121
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- Article
Prolapsed lumbar disc in alkaptonuria.
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- Journal of Dr. NTR University of Health Sciences, 2016, v. 5, n. 1, p. 55, doi. 10.4103/2277-8632.178980
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- Article
Prevalence of Alkaptonuria among group of patients with low back pain in Erbil.
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- Tikrit Medical Journal, 2016, v. 21, n. 2, p. 78
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- Article
Alkaptonuria: A case report.
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- 2017
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- Publication type:
- journal article
Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria.
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- Clinical Rheumatology, 2016, v. 35, n. 2, p. 513, doi. 10.1007/s10067-015-2983-1
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- Article
Alkaptonuria And Ochronotic Arthropathy: The Path to Pain-Free Mobility.
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- Case Reports in Clinical Practice, 2023, v. 8, n. 6, p. 238
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- Article
Focal Ligamentum Flavum Hypertrophy with Ochronotic Deposits: An Unusual Cause for Neurogenic Claudication in Alkaptonuria.
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- Asian Spine Journal, 2012, v. 6, n. 2, p. 148, doi. 10.4184/asj.2012.6.2.148
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- Article
ALKAPTONURIA: A CASE REPORT.
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- 2018
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- Case Study
MACROSCOPIC ASPECTS IN ALKAPTONURIA COMPLICATED IN EVOLUTION WITH MYOCARDIAL INFARCTION AND CARDIAC TAMPONADE.
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- Romanian Journal of Functional & Clinical, Macro & Microscopical Anatomy & of Anthropology / Revista Româna de Anatomie Functionala si Clinica, Macro si Microscopica si de Antropologie, 2017, v. 16, n. 4, p. 373
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- Article
Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review.
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- Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 6, p. 1, doi. 10.7860/JCDR/2018/35741.11629
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- Article
Myocardial Infarction with Alkaptonuria: A Case Report.
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- 2018
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- Case Study
Alkaptonuria: A Case Report With Diagnostic Challenge.
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- South Dakota Medicine, 2017, v. 70, n. 8, p. 366
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- Article
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
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- Rheumatology International, 2012, v. 32, n. 6, p. 1741, doi. 10.1007/s00296-011-1868-0
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- Article
Measurements of Homogentisic Acid levels in Alkaptonuria Patients Using an Optimized and Validated Gas Chromatography Method/Mass Spectrometry.
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- Jordan Journal of Biological Sciences, 2014, v. 7, n. 3, p. 195, doi. 10.12816/0008238
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- Article
Alkaptonuria- Associated Aortic Stenosis.
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- Journal of Cardiac Surgery, 2013, v. 28, n. 4, p. 417, doi. 10.1111/jocs.12129
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- Article
A novel deep intronic variant strongly associates with Alkaptonuria.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00252-2
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- Article
First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106948
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- Article
Detection of Novel Visible-Light Region Absorbance Peaks in the Urine after Alkalization in Patients with Alkaptonuria.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086606
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- Article
Alkaptonuria in a 5-year-old boy in Iraq.
- Published in:
- 2008
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- Case Study
Diagnosis of alkaptonuria.
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- 2012
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- Publication type:
- Letter
Identification of forty cases with alkaptonuria in one village in Jordan.
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- Rheumatology International, 2012, v. 32, n. 12, p. 3737, doi. 10.1007/s00296-011-2219-x
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- Article
Affective Symptoms in a Patient with Parkinson's Disease and Alkaptonuria.
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- Psychiatric Annals, 2020, v. 50, n. 2, p. 81, doi. 10.3928/00485713-20200106-01
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- Article
Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature.
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- 2012
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- Publication type:
- Letter
Poster 12 Functional Limitations and Disabilities in Alkaptonuria in a 3‐Year Treatment Trial With Nitisinone.
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- 2012
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- Publication type:
- Abstract
Alcaptonuria: evolución y curso de la enfermedad hacia artropatía ocronótica. Serie de casos manejados con reemplazo articular.
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- Acta Ortopédica Mexicana, 2022, v. 36, n. 6, p. 379, doi. 10.35366/111872
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- Article
Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre.
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- Osteoporosis International, 2021, v. 32, n. 5, p. 927, doi. 10.1007/s00198-020-05671-y
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- Article
Ochronotic Heart Disease: A Case Report of Aortic Valve Replacement and Coronary Artery Bypass Grafting in a Patient with Alkaptonuria.
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- Journal of Cardio-Thoracic Medicine, 2024, v. 12, n. 4, p. 1435, doi. 10.22038/jctm.2025.84836.1480
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- Article