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Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 25, doi. 10.1002/jmd2.12225
By:
- Ranganath, Lakshminarayan;
- Khedr, Milad;
- Evans, Leanne A.;
- Bygott, Helen;
- Luangrath, Emily;
- West, Elizabeth
Publication type:
Article
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 737, doi. 10.1002/jimd.12181
By:
- Ranganath, Lakshminarayan R.;
- Milan, Anna M.;
- Hughes, Andrew T.;
- Khedr, Milad;
- Davison, Andrew S.;
- Shweihdi, Ella;
- Norman, Brendan P.;
- Hughes, Juliette H.;
- Bygott, Helen;
- Luangrath, Emily;
- Fitzgerald, Richard;
- Psarelli, Eftychia E.;
- Kan, Christa;
- Laan, Dinny;
- Olsson, Birgitta;
- Rudebeck, Mattias;
- Mankowitz, Louise;
- Sireau, Nicolas;
- Arnoux, Jean‐Baptiste;
- Le Quan Sang, Kim‐Hanh
Publication type:
Article