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Quoted phrase not found in phrase index: "Ochronosis disorder"
Page 1
How to investigate new-onset polyarthritis.
Kumar A. Kumar A. Best Pract Res Clin Rheumatol. 2014 Dec;28(6):844-59. doi: 10.1016/j.berh.2015.04.014. Epub 2015 May 23. Best Pract Res Clin Rheumatol. 2014. PMID: 26096089 Review.
Polyarthritis comprises a large number of conditions ranging from rheumatoid arthritis (RA) to metabolic conditions such as ochronosis. Differential diagnosis begins with delineation of inflammatory from non-inflammatory disorders using laboratory markers of inflamm …
Polyarthritis comprises a large number of conditions ranging from rheumatoid arthritis (RA) to metabolic conditions such as ochronosis …
Ochronosis Presenting as Methemoglobinemia.
Hugar SB, Shulman J, Yanta J, Nine J. Hugar SB, et al. J Forensic Sci. 2019 May;64(3):913-916. doi: 10.1111/1556-4029.13907. Epub 2018 Sep 19. J Forensic Sci. 2019. PMID: 30229904
In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia presented with 3 days of weakness and months of gray skin discoloration. ...
In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia …
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
INTRODUCTION: Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. ...
INTRODUCTION: Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic aci …
Exogenous ochronosis. An update on clinical features, causative agents and treatment options.
Levin CY, Maibach H. Levin CY, et al. Am J Clin Dermatol. 2001;2(4):213-7. doi: 10.2165/00128071-200102040-00002. Am J Clin Dermatol. 2001. PMID: 11705248 Review.
Exogenous ochronosis is clinically and histologically similar to its endogenous counterpart; however, it exhibits no systemic effects and is not an inherited disorder. ...Exogenous ochronosis is prevalent among South African Blacks, but is believed relatively …
Exogenous ochronosis is clinically and histologically similar to its endogenous counterpart; however, it exhibits no systemic effects …
Ochronotic arthropathy.
Borman P, Bodur H, Ciliz D. Borman P, et al. Rheumatol Int. 2002 Mar;21(5):205-9. doi: 10.1007/s00296-002-0175-1. Rheumatol Int. 2002. PMID: 11958438 Review.
Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. ...
Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with …
Long-term follow-up of alkaptonuria patients: single center experience.
Bozaci AE, Yazici H, Canda E, Uçar SK, Guvenc MS, Berdeli A, Habif S, Coker M. Bozaci AE, et al. J Pediatr Endocrinol Metab. 2022 Jun 6;35(7):913-923. doi: 10.1515/jpem-2022-0004. Print 2022 Jul 26. J Pediatr Endocrinol Metab. 2022. PMID: 35671204
OBJECTIVES: Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. ...Since the initial period is asymptomatic, giving potentially effective tre …
OBJECTIVES: Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenas …
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
Khalil R, Ali D, Mwafi N, Alsaraireh A, Obeidat L, Albsoul E, Al Sbou' I. Khalil R, et al. Biomed Res Int. 2021 Mar 11;2021:1515641. doi: 10.1155/2021/1515641. eCollection 2021. Biomed Res Int. 2021. PMID: 34235214 Free PMC article.
BACKGROUND: Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. . …
BACKGROUND: Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a defi …
Natural history of alkaptonuria.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.
BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, …
BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation …
Alkaptonuria in France: past experience and lessons for the future.
Aquaron RR. Aquaron RR. J Inherit Metab Dis. 2011 Dec;34(6):1115-26. doi: 10.1007/s10545-011-9392-7. Epub 2011 Sep 17. J Inherit Metab Dis. 2011. PMID: 21927854 Review.
Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 1,2-dioxygenase (HGD) deficiency in the liver and characterized by a triad of signs, according to chronology of appearance: homogentisic aciduria (HGA) or alkaptonuria, ochronosis then ochron …
Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 1,2-dioxygenase (HGD) deficiency in the liver and characte …
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A. Zatkova A. J Inherit Metab Dis. 2011 Dec;34(6):1127-36. doi: 10.1007/s10545-011-9363-z. Epub 2011 Jul 1. J Inherit Metab Dis. 2011. PMID: 21720873
Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. ...AKU shows a very low prevalence (1:100,000-250,000) in most ethni …
Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized …
47 results