RHEUMATISM AND ARTHRITIS: REVIEW OF AMERICAN AND ENGLISH LITERATURE OF RECENT YEARS: (Ninth Rheumatism Review): Part II

doi:10.7326/0003-4819-28-2-309

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Clinical Findings Ochronosis1

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2020

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Cited by 23 publications

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“…It occurs at an earlier age and is more severe in males than in females [239], even though the sex incidence of alkaptonuria is roughly equal. Roentgenographically, it resembles osteoarthritis [240,241]. The arthritis and other ochronotic manifestation are thought to be the result of from binding of highly reactive oxidation products of homogentisic acid to cartilage and other tissues.…”

Section: Clinical Findings Ochronosismentioning

confidence: 99%

Disorders of phenylalanine and tyrosine metabolism

Alsharhan

Fıçıcıoğlu

2020

TRD

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This article provides a review of the inborn errors of phenylalanine and tyrosine metabolism including the diagnostic approach, dietary and pharmalogical management and emerging therapies. Hyperphenylalaninaemia results mainly from defects in either phenylalanine hydroxylase (PAH) (resulting in phenylketonuria (PKU)) or the production or recycling of tetrahydrobiopterin (BH 4). Untreated PKU results in irreversible neurocognitive impairment. Five inherited disorders of tyrosine metabolism are known, which include tyrosinemia type I, type II, type III, hawkinsinuria and alkaptonuria. Newborn screening for these disorders has enabled their early detection and decreased the associated morbidity and mortality.

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Section: Clinical Findings Ochronosismentioning

confidence: 99%