A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers

Author:

Ranganath L.R.,Milan A.M.,Bay-Jensen A.C.,Thudium C.S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference36 articles.

1. Analysis of HGD Gene mutations in patients with alkaptonuria from the United Kingdom: IdeNTIFICATION OF NOVEL MUTATIons;Usher;JIMD Rep.,2015

2. First treatment for rare metabolic disorder alkaptonuria. https://www.ema.europa.eu/en/news/first-treatment-rare-metabolic-disorder-alkaptonuria).

3. Alkaptonuria - many questions answered, further challenges beckon;Davison;Ann. Clin. Biochem.,2020

4. Oxidation of homogentisic acid to ochronotic pigment in connective tissue;Zannoni;Biochim. Biophys. Acta,1969

5. Pigmentation chemistry and radical-based collagen degradation in alkaptonuria and osteoarthritic cartilage;Chow;Angew. Chem. Int. Ed.,2020

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