1. Garrod AE : The incidence of alkaptonurea: a study in chemical individuality. Lancet 1902; 2: 1616–1620.
2. Landsteiner K : Ueber agglutinationserscheinungen normalen menschlichen Blutes. Wiener Klinische Wochenschrift 1901; 46: 1132–1134.
3. McKusick VA . Mendelian inheritance in man, a catalogue of autosomal dominant. Autosomal Recessive, and X-linked Phenotypes 1st edn. Baltimore, MD: Johns Hopkins University Press, (1966.
4. Online Mendelian Inheritance in Man. An Online Catalog of Human Genes and Genetic Disorders (OMIM), 2017 https://www.omim.org/statistics/entry (accessed 8 September 2017).
5. Orphanet, 2017 https://www.orpha.net (accessed 8 September 2017).