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alkaptonuria

Synonyms

Noun

1. alcaptonuria

2. metabolic disorder

Usage
Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report - Cureus
Alkaptonuria as a cause of pseudo-proteinuria in two children evaluated for renal disease - Springer Nature Link
SMILES-based degree molecular descriptors and machine learning for QSPR modeling of anti-alkaptonuria drugs - Frontiers
Natural History of Alkaptonuria - The New England Journal of Medicine
Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria - JACC Journals
Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature - Cureus
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria - Nature
Aortic Valve Stenosis in Alkaptonuria - American Heart Association Journals
Tyrosinase drives hydroquinone-induced exogenous ochronosis: not HGD inhibition - EurekAlert!
FDA Approves Nitisinone (HARLIKU) for Treatment of Alkaptonuria - HCPLive
Nitisinone Becomes First and Only FDA-Approved Treatment for HGA in Adults With AKU - Pharmacy Times
Homogentisate 1,2-dioxygenase ( HGD ) gene variants in young Egyptian patients with alkaptonuria - Nature
Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report - Frontiers
A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report - Cureus
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria | Scientific Reports - Nature
Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review - Cureus
Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria - Nature
Anaesthesia Considerations in a Case of Alkaptonuria Posted for Total Knee Arthroplasty - Cureus
Alkaptonuria Diagnosis Following a Discectomy: A Case Report - Cureus
Intraoperative Findings in Total Hip Arthroplasty Leading to a Diagnosis of Alkaptonuria in a Patient With Severe Hip Osteoarthritis Initially Attributed to Rheumatoid Arthritis: A Case Report - Cureus
Cycle Pharmaceuticals Selects LeMed Specialty Pharmacy as Exclusive U.S. Specialty Pharmacy Distribution and Services Partner for HARLIKU™ (nitisinone) Tablets --the First and only FDA-approved Treatment for Reducing Urinary Homogentisic Acid (HG - PR Newswire
Increased prevalence of Parkinson's disease in alkaptonuria - Ranganath - 2023 - JIMD Reports - Wiley Online Library
Case report: Thoracolumbar spinal stenosis associated with alkaptonuria - Frontiers
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients - Nature
A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria - Nature
FDA Approves Cycle Pharmaceuticals’ Harliku for Alkaptonuria - Pharmaceutical Executive
What is alkaptonuria? The rare disease that turns your pee black - Live Science
Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation - Wiley Online Library
Alkaptonuria: a rare disorder associated with common conditions - Springer Nature Link
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy - Nature
Alkaptonuria Presenting With Lumbar Disc Herniation: A Case Report - Cureus
FDA OKs Nitisinone for Ultra-Rare Black Urine Disease - MedPage Today
Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage - Wiley Online Library
Cycle Pharmaceuticals’ HARLIKU™ (nitisinone) Tablets Receive First FDA-Approval as Treatment for Alkaptonuria (AKU) - BioSpace
Absorbance measurements of oxidation of homogentisic acid accelerated by the addition of alkaline solution with sodium hypochlorite pentahydrate - Nature
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre - Wiley Online Library
Inside Cover: Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage (Angew. Chem. Int. Ed. 29/2020) - Wiley Online Library
Case 208: AlkaptonuriaRadiology - RSNA Journals
Indianapolis Zoo orangutan diagnosed with rare genetic disease - WTHR
Case 208: Alkaptonuria - RSNA Journals
Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide - Ebrahim - 2022 - Clinical Case Reports - Wiley Online Library
Alkaptonuria: New hope for treatment of rare genetic disease - Medical Xpress
Endogenous ochronosis in dermal melanocytic nevi: diagnosis of alkaptonuria by skin biopsy - Wiley Online Library
Alkaptonuria: Why does it turn urine black? Urologist explains the long-term effects | Health - Hindustan Times
Bilateral Patellar Tendon Rupture Following Total Knee Arthroplasty in a Patient With Alkaptonuria: A Case Report - Cureus
Team diagnoses Mila the orangutan with rare genetic disease - futurity.org
Ochronosis - The New England Journal of Medicine
Finding ochronotic sclera and ear discoloration in a 75-year-old man leads to a diagnosis of alkaptonuria - The Lancet
Rare Disease Day - Parkview Health
ENT manifestations of alkaptonuria: report on a case series - Cambridge University Press & Assessment
In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I - PNAS
Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report - Frontiers
Medical Mystery: The Answer - The New England Journal of Medicine
Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India) - Springer Nature Link
IU School of Medicine diagnoses Indy Zoo Orangutan Mila with rare genetic disease - WRTV
Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy - Frontiers
Clinical Challenge: Bluish-black skin changes, tendonitis and arthritis - Medical Professionals Reference
A Treatment for Ultra-Rare Black Bone Disease has Been Developed - Technology Networks
The Patient Who Turned to the “Dark Side” - American Academy of Ophthalmology
Liverpool-led study shows first known effective treatment for rare genetic disease - University of Liverpool
Derm Dx: Bluish-black skin changes, tendinitis and arthritis - Clinical Advisor
Ochronosis, Black Urine - HuffPost
Drug used in weedkiller could help thousands suffering from 'black bone disease' - Sky News
Repurposing drugs and reducing pain - The Naked Scientists
Why is rare disease funding rare? - pharmaphorum
Black bones: a case of incidental discovery of ochronotic arthropathy - The Medical Journal of Australia
'I've had purple urine since I was in nappies, but only found out why aged 53' - Wales Online
Rare 'black bone' disease symptoms as 'silent' condition can go undiagnosed for years - Daily Record
Dad quits job to find cure for his two sons' rare gene disease - The Mirror
Foreign Language Equivalents
Foreign Language Equivalents of 'alkaptonuria'
Language Equivalent   Language Equivalent
French alkaptonuria    Spanish
Misspellings - Typos
,   alkapyonuria,   alkaptonuriaa,   alkaptonuriia,   slkaptonuria,   alkaptnuria,   alkaptonurai,   alkaptpnuria,   alka[tonuria,   alkaptonruia,   aklaptonuria,   alkaptonyria,   alkaptnouria,   alkaponuria,   alkaptoburia,   alkaptonurua,   alkatonuria,   alkapotnuria,   alkaptomuria,   alkaptonuuria,   alkaotonuria,   alkapronuria,   alkaptounria,   alkaptoonuria,   allaptonuria,   alakptonuria,   akaptonuria,   a;kaptonuria,   aljaptonuria,   alkapttonuria,   alkaptonuira,   alaptonuria,   alkkaptonuria,   alkaptouria,   alkatponuria,   alkaptinuria,   akkaptonuria,   alkaptonurria,   alkaptonueia,   alkaptoniria,   lakaptonuria,   alkaptonuri,   alkaptonutia,   allkaptonuria,   alksptonuria,   alkptonuria,   alkaptonura,   lkaptonuria,   aalkaptonuria,   alkaptonria,   alkaptonnuria,   alkaptonuroa,   alkpatonuria,   alkaaptonuria,   alkaptonuia,   alkapptonuria,   alkaptonuris
Words Starting with Letter - 'A'
a a battery a billion
a bit a bit much a capella singing
a cappella singing a couple of a few
a fortiori a good deal a great deal
a horizon a hundred a hundred and one
a hundred thousand a hundred times a kempis
a la carte a la mode a level
a little a lot a million
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