Disease on EC 1.13.11.5 - homogentisate 1,2-dioxygenase
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Alkaptonuria
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
Alkaptonuria
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.
Alkaptonuria
A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
Alkaptonuria
Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.
Alkaptonuria
Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis.
Alkaptonuria
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
Alkaptonuria
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Alkaptonuria
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Alkaptonuria
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.
Alkaptonuria
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient.
Alkaptonuria
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Alkaptonuria
Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report.
Alkaptonuria
Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.
Alkaptonuria
Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up.
Alkaptonuria
Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine.
Alkaptonuria
Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse.
Alkaptonuria
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Alkaptonuria
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
Alkaptonuria
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Alkaptonuria
Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria.
Alkaptonuria
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
Alkaptonuria
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Alkaptonuria
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
Alkaptonuria
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
Alkaptonuria
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.
Alkaptonuria
First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.
Alkaptonuria
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
Alkaptonuria
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
Alkaptonuria
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Alkaptonuria
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
Alkaptonuria
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria.
Alkaptonuria
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Alkaptonuria
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/?-catenin signaling pathway.
Alkaptonuria
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
Alkaptonuria
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.
Alkaptonuria
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Alkaptonuria
Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
Alkaptonuria
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Alkaptonuria
Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature.
Alkaptonuria
Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy.
Alkaptonuria
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Alkaptonuria
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
Alkaptonuria
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Alkaptonuria
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Alkaptonuria
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Alkaptonuria
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Alkaptonuria
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Alkaptonuria
Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Alkaptonuria
Musculoskeletal manifestations of alkaptonuria: A case report and literature review.
Alkaptonuria
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
Alkaptonuria
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Alkaptonuria
Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.
Alkaptonuria
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China.
Alkaptonuria
Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.
Alkaptonuria
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.
Alkaptonuria
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Alkaptonuria
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Alkaptonuria
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Alkaptonuria
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
Alkaptonuria
Osteoarthritis? Ochronotic arthritis! : A case study and review of the literature.
Alkaptonuria
Recent advances in management of alkaptonuria (invited review; best practice article).
Alkaptonuria
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
Alkaptonuria
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.
Alkaptonuria
Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.
Alkaptonuria
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Alkaptonuria
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
Alkaptonuria
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
Alkaptonuria
Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development.
Alkaptonuria
Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria.
Alkaptonuria
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]
Alkaptonuria
[Case report of a patient with ochronosis and arthroplasty of the hip and both knees]
Alkaptonuria
[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]
Arthritis
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Arthritis
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Carcinogenesis
Altered Expression of Oxidative Metabolism Related Genes in Cholangiocarcinomas.
Genetic Diseases, Inborn
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Genetic Diseases, Inborn
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Genetic Diseases, Inborn
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Genetic Diseases, Inborn
Renal and prostate stones composition in alkaptonuria: a case report.
Genetic Diseases, Inborn
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]
homogentisate 1,2-dioxygenase deficiency
Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria.
homogentisate 1,2-dioxygenase deficiency
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
homogentisate 1,2-dioxygenase deficiency
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.
homogentisate 1,2-dioxygenase deficiency
Ochronotic arthritis of bilateral knees: a case report.
homogentisate 1,2-dioxygenase deficiency
[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]
homogentisate 1,2-dioxygenase deficiency
[Black knee-ochronotic alterations in alkaptonuria].
homogentisate 1,2-dioxygenase deficiency
[Knee ochronotic arthropathy and arthroscopic findings]
homogentisate 1,2-dioxygenase deficiency
[Ochronotic changes in alkaptonuria: a case report]
Joint Diseases
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Joint Diseases
Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.
Joint Diseases
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Joint Diseases
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Metabolic Diseases
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Metabolic Diseases
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Metabolic Diseases
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Metabolic Diseases
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Metabolic Diseases
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.
Metabolic Diseases
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Metabolic Diseases
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
Metabolic Diseases
[Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases.]
Metabolic Diseases
[Important bilateral corneal astigmatism in a case of ocular ochronosis]
Metabolic Diseases
[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]
Neoplasms
D-Aminoacid oxidase and homogentisate oxygenase activities in the tumor bearing rats.
Tyrosinemias
Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1-3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat.
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