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About 416 results

ALLMedicine Ochronosis Center

Research & Reviews  205 results

Cardiovascular ochronosis.
https://doi.org/10.1016/j.carpath.2020.107219
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology; Ather N, Roberts WC

May 30th, 2020 - In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of ar...

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Feb 24th, 2020 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Presentation of 14 alkaptonuria patients from Turkey.
https://doi.org/10.1515/jpem-2019-0163
Journal of Pediatric Endocrinology & Metabolism : JPEM; Akbaba AI, Ozgül RK et. al.

Jan 13th, 2020 - Background Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency. Due to the enzyme deficiency, homogentisic acid cannot be converted to maleylac...

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.

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion...
https://doi.org/10.1002/jimd.12181
Journal of Inherited Metabolic Disease REFERENCES; Ranganath LR, Milan AM et. al.

Oct 14th, 2019 - The clinical effects of alkaptonuria (AKU) are delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or processed in ...

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Clinicaltrials.gov  207 results

Cardiovascular ochronosis.
https://doi.org/10.1016/j.carpath.2020.107219
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology; Ather N, Roberts WC

May 30th, 2020 - In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of ar...

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Feb 24th, 2020 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Presentation of 14 alkaptonuria patients from Turkey.
https://doi.org/10.1515/jpem-2019-0163
Journal of Pediatric Endocrinology & Metabolism : JPEM; Akbaba AI, Ozgül RK et. al.

Jan 13th, 2020 - Background Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency. Due to the enzyme deficiency, homogentisic acid cannot be converted to maleylac...

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.

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion...
https://doi.org/10.1002/jimd.12181
Journal of Inherited Metabolic Disease REFERENCES; Ranganath LR, Milan AM et. al.

Oct 14th, 2019 - The clinical effects of alkaptonuria (AKU) are delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or processed in ...

see more →

News  4 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.

Primary Multiple Miliary Osteoma Cutis and Exogenous Ochronosis
https://www.mdedge.com/dermatology/article/66664/primary-multiple-miliary-osteoma-cutis-and-exogenous-ochronosis
Bowman PH, Lesher Jl Jr

Multiple miliary osteoma cutis (MMOC), a rare disorder characterized by the appearance of numerous bony nodules on the face, was initially classified as a consequence of severe, long-standing acne vulgaris. However, several cases have now been des.

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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