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About 278 results

ALLMedicine™ Alkaptonuria Center

Research & Reviews  108 results

Alkaptonuria in Russia.
https://doi.org/10.1038/s41431-021-00955-1 10.1016/j.ejmg.2021.104165 10.1016/0304-4165(69)90068-3 10.2147/TACG.S186773 10.1006/geno.1997.4805 10.1038/s41431-019-0354-0 10.1007/8904_2011_68 10.1038/gim.2015.30 10.1093/oxfordjournals.hmg.a018927 10.1002/jimd.12181 10.1136/jclinpath-2012-200877 10.1016/S2213-8587(20)30228-X 10.1515/jpem-2019-0163 10.1016/j.ejmg.2021.104197 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N 10.1002/humu.22981
European Journal of Human Genetics : EJHG; Soltysova A, Kuzin A et. al.

Sep 11th, 2021 - Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading t...

Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis.
https://doi.org/10.1111/jocs.15738
Journal of Cardiac Surgery; Velez AK, Gaughan NA et. al.

Jun 14th, 2021 - Cardiac ochronosis is a rare disease, estimated to affect 1 in 250,000 persons. While there is extensive evidence of the musculoskeletal alterations of the disease, cardiac involvement has not been widely studied and most information we currently ...

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
https://doi.org/10.1016/j.ejmg.2021.104197
European Journal of Medical Genetics; Kisa PT, Gunduz M et. al.

Mar 23rd, 2021 - Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, whic...

A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8285993
Current Allergy and Asthma Reports; Chu P, Cuellar MC et. al.

Mar 6th, 2021 - Ochronosis and alkaptonuria are manifestations of the same condition-a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In oc...

Alkaptonuria in Russia: mutational spectrum and novel variants.
https://doi.org/10.1016/j.ejmg.2021.104165
European Journal of Medical Genetics; Bychkov I, Kamenets E et. al.

Feb 24th, 2021 - Alkaptonuria is a rare genetic disease caused by mutations in HGD gene. Here we report the results of genetic and biochemical analysis of 49 Russian patients with alkaptonuria. One of the common variants c.481G > A; p.(Gly161Arg) comprising 72.4% ...

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News  3 results

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
https://www.mdedge.com/fedprac/article/215093/pain/incidentally-discovered-ochronosis-explaining-decades-chronic-pain/page/0/2?channel=285

Jan 7th, 2020 - Manipulating the metabolic pathway of phenylalanine with medication is a second option. An example of this is nitisinone, a US Food and Drug Administration-approved medication for treatment of tyrosinemia.

Localized Argyria With Pseudo-ochronosis
https://www.mdedge.com/dermatology/article/96357/dermatopathology/localized-argyria-pseudo-ochronosis
Kyle M. Devins, BS, Herman S. Mogavero Jr, MD et. al.

Jan 9th, 2015 - Localized cutaneous argyria often presents as asymptomatic black or blue-gray pigmented macules in areas of the skin exposed to silver-containing compounds. 1 Silver may enter the skin by traumatic implantation or absorption via eccrine sweat gland.

On the Ocular Findings in Ochronosis
https://www.medscape.com/viewarticle/820497

Abstract Background Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autoso...

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