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Alkaptonuria: Current Perspectives

The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characterized by the presence of dark ochronotic pigment in t...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Appl Clin Genet
Päätekijät: Zatkova, Andrea, Ranganath, Lakshminarayan, Kadasi, Ludevit
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Dove 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6986890/
https://ncbi.nlm.nih.gov/pubmed/32158253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S186773
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