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About 646 results

ALLMedicine™ Alkaptonuria Center

Research & Reviews  321 results

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 22nd, 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...

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 23rd, 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% ...

Alkaptonuria in an adolescent boy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868218
BMJ Case Reports; Sangeetha G, Chandran S et. al.

Feb 5th, 2021 - Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod's tetrad of 'inborn errors of metabolism' proposed to have Mendelian recessive inheritance. The disorder is characterised by depositio...

Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of h...
https://doi.org/10.1002/jimd.12363
Journal of Inherited Metabolic Disease; Ranganath LR, Khedr M et. al.

Jan 16th, 2021 - A large alkaptonuria (AKU) cohort was studied to better characterize the poorly understood spondyloarthropathy of rare disease AKU. Eighty-seven patients attended the National Alkaptonuria Centre (NAC) between 2007 and 2020. Seven only attended on...

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Clinicaltrials.gov  323 results

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 22nd, 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...

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 23rd, 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% ...

Alkaptonuria in an adolescent boy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868218
BMJ Case Reports; Sangeetha G, Chandran S et. al.

Feb 5th, 2021 - Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod's tetrad of 'inborn errors of metabolism' proposed to have Mendelian recessive inheritance. The disorder is characterised by depositio...

Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of h...
https://doi.org/10.1002/jimd.12363
Journal of Inherited Metabolic Disease; Ranganath LR, Khedr M et. al.

Jan 16th, 2021 - A large alkaptonuria (AKU) cohort was studied to better characterize the poorly understood spondyloarthropathy of rare disease AKU. Eighty-seven patients attended the National Alkaptonuria Centre (NAC) between 2007 and 2020. Seven only attended on...

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News  2 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.

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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