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1963 2
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1992 3
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1998 4
1999 1
2000 3
2001 2
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124 results

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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. ...In later stages, patients' quality of life might be seriously compromised and further complicated by comorbidities. Thus, appropriate management of a
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. ...In later sta
Cardiovascular ochronosis.
Ather N, Roberts WC. Ather N, et al. Cardiovasc Pathol. 2020 Sep-Oct;48:107219. doi: 10.1016/j.carpath.2020.107219. Epub 2020 Mar 7. Cardiovasc Pathol. 2020. PMID: 32473412 Review.
Alkaptonuria.
Grosicka A, Kucharz EJ. Grosicka A, et al. Wiad Lek. 2009;62(3):197-203. Wiad Lek. 2009. PMID: 20229718 Review.
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homogentisic acid oxidase. ...The features of the disease are associated with affinity of homogentisic acid to the connective tissue and its effect on
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homogentisi
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
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
"Lessons from Rare Forms of Osteoarthritis".
Shepherd RF, Kerns JG, Ranganath LR, Gallagher JA, Taylor AM. Shepherd RF, et al. Calcif Tissue Int. 2021 Sep;109(3):291-302. doi: 10.1007/s00223-021-00896-3. Epub 2021 Aug 21. Calcif Tissue Int. 2021. PMID: 34417863 Free PMC article. Review.
The extreme phenotypes seen in conditions such as Camptodactyly Arthropathy-Coxa Vara-pericarditis Syndrome, Chondrodysplasias and Alkaptonuria all present potential opportunities for greater understanding of disease pathogenesis, novel therapeutic interventions and diagno …
The extreme phenotypes seen in conditions such as Camptodactyly Arthropathy-Coxa Vara-pericarditis Syndrome, Chondrodysplasias and Alkapt
Family history of ochronotic arthropathy.
Gómez-Lechón Quirós L, Hidalgo Calleja C, Acosta de la Vega ME, Compán Fernández O, Pastor Navarro S, Montilla Morales C. Gómez-Lechón Quirós L, et al. Rheumatol Int. 2021 Oct;41(10):1869-1874. doi: 10.1007/s00296-020-04640-2. Epub 2020 Jul 8. Rheumatol Int. 2021. PMID: 32642830 Review.
Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. ...We report two clinical cases of one brother and sister with alkaptonuria and ochronotic arthropathy diagnosed in old age. In the first case, the pa
Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. ...We report two
Clinical and imaging mimickers of axial spondyloarthritis.
Slobodin G, Lidar M, Eshed I. Slobodin G, et al. Semin Arthritis Rheum. 2017 Dec;47(3):361-368. doi: 10.1016/j.semarthrit.2017.05.009. Epub 2017 May 20. Semin Arthritis Rheum. 2017. PMID: 28606599 Review.
ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications.
Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J. Cannon Homaei S, et al. Neurosci Biobehav Rev. 2022 Jan;132:838-856. doi: 10.1016/j.neubiorev.2021.11.012. Epub 2021 Nov 11. Neurosci Biobehav Rev. 2022. PMID: 34774900 Free article. Review.
ADHD symptoms have been described in phenylketonuria, tyrosinemias, alkaptonuria, succinic semialdehyde dehydrogenase deficiency, X-linked ichthyosis, maple syrup urine disease, and several mitochondrial disorders, but are probably present in many other NMDs and may pose d …
ADHD symptoms have been described in phenylketonuria, tyrosinemias, alkaptonuria, succinic semialdehyde dehydrogenase deficiency, X-l …
Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.
Loret A, Jacob C, Mammou S, Bigot A, Blasco H, Audemard-Verger A, Schwartz IV, Mulleman D, Maillot F. Loret A, et al. Orphanet J Rare Dis. 2023 Aug 10;18(1):239. doi: 10.1186/s13023-023-02810-6. Orphanet J Rare Dis. 2023. PMID: 37563694 Free PMC article. Review.
Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosi …
Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc c …
124 results