Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2013 19
2014 19
2015 20
2016 22
2017 18
2018 20
2019 25
2020 28
2021 29
2022 23
2023 18
2024 17
2025 20
2026 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

245 results

Results by year

Filters applied: . Clear all
Page 1
Alkaptonuria.
Bernardini G, Braconi D, Zatkova A, Sireau N, Kujawa MJ, Introne WJ, Spiga O, Geminiani M, Gallagher JA, Ranganath LR, Santucci A. Bernardini G, et al. Nat Rev Dis Primers. 2024 Mar 7;10(1):16. doi: 10.1038/s41572-024-00498-x. Nat Rev Dis Primers. 2024. PMID: 38453957 Review.
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. ...As an autosomal recessive disorder, alkaptonuria affects men and women equally. Debilitating symptoms appear around the third decade of life, but …
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. ...As an autoso …
Black urine-alkaptonuria.
Annamalai AK, Gurnell M. Annamalai AK, et al. QJM. 2022 Jun 7;115(6):397-398. doi: 10.1093/qjmed/hcac098. QJM. 2022. PMID: 35394539 Free article. No abstract available.
Alkaptonuria.
Bassily E, O'Dell MC, Homan B, Wasyliw C. Bassily E, et al. Orthopedics. 2016 Jul 1;39(4):e810-3. doi: 10.3928/01477447-20160503-03. Epub 2016 May 9. Orthopedics. 2016. PMID: 27158826
Amyloidosis in alkaptonuria.
Millucci L, Braconi D, Bernardini G, Lupetti P, Rovensky J, Ranganath L, Santucci A. Millucci L, et al. J Inherit Metab Dis. 2015 Sep;38(5):797-805. doi: 10.1007/s10545-015-9842-8. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868666 Review.
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA-melanin ochronotic pigment, of hitherto unknown composition. ...
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing …
Alkaptonuria in Russia.
Soltysova A, Kuzin A, Samarkina E, Zatkova A. Soltysova A, et al. Eur J Hum Genet. 2022 Feb;30(2):237-242. doi: 10.1038/s41431-021-00955-1. Epub 2021 Sep 10. Eur J Hum Genet. 2022. PMID: 34504318 Free PMC article.
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 to early-onset severe arthr …
Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess H …
Alkaptonuria - Past, present and future.
Davison AS, Norman BP. Davison AS, et al. Adv Clin Chem. 2023;114:47-81. doi: 10.1016/bs.acc.2023.02.005. Epub 2023 Mar 28. Adv Clin Chem. 2023. PMID: 37268334 Review.
Alkaptonuria (AKU) is an ultra-rare inherited inborn error of metabolism that afflicts the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid (HGA) in the circulation, and significant excretion in urine. ...
Alkaptonuria (AKU) is an ultra-rare inherited inborn error of metabolism that afflicts the tyrosine metabolic pathway, resulting in t …
Angiogenesis in alkaptonuria.
Millucci L, Bernardini G, Marzocchi B, Braconi D, Geminiani M, Gambassi S, Laschi M, Frediani B, Galvagni F, Orlandini M, Santucci A. Millucci L, et al. J Inherit Metab Dis. 2016 Nov;39(6):801-806. doi: 10.1007/s10545-016-9976-3. Epub 2016 Sep 26. J Inherit Metab Dis. 2016. PMID: 27671890
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. ...
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and littl …
Alkaptonuric Ochronosis.
Singh O, Muthukrishna Pandian R, Sudhakar Kekre N. Singh O, et al. Urology. 2017 Feb;100:e3-e4. doi: 10.1016/j.urology.2016.09.035. Epub 2016 Nov 2. Urology. 2017. PMID: 27816602
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, a …
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in ac …
Aortic distensibility in alkaptonuria.
Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY. Thimmapuram R, et al. Mol Genet Metab. 2020 Aug;130(4):289-296. doi: 10.1016/j.ymgme.2020.05.006. Epub 2020 May 18. Mol Genet Metab. 2020. PMID: 32466960
Descending thoracic aortic distensibility in alkaptonuria has not been studied. METHODS: Patients diagnosed with alkaptonuria underwent Magnetic Resonance Imaging (MRI) and gated non-contrast and contrast-enhanced cardiovascular computed tomography. ...Aortic disten …
Descending thoracic aortic distensibility in alkaptonuria has not been studied. METHODS: Patients diagnosed with alkaptonuria …
Alkaptonuria--case report.
Craide FH, Fonseca JS, Mariano PC, Fernandez NM, Castro CG, Mene Yde S. Craide FH, et al. An Bras Dermatol. 2014 Sep-Oct;89(5):799-801. doi: 10.1590/abd1806-4841.20143052. An Bras Dermatol. 2014. PMID: 25184921 Free PMC article.
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. ...The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised t …
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. ...The findings are compatible wit …
245 results