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Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris M, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW. Rees DC, et al. Among authors: wales jk. Br J Haematol. 2005 Jul;130(2):297-309. doi: 10.1111/j.1365-2141.2005.05599.x. Br J Haematol. 2005. PMID: 16029460 Free article.
Adrenal insufficiency in phytosterolaemia.
Mushtaq T, Wales JK, Wright NP. Mushtaq T, et al. Among authors: wales jk. Eur J Endocrinol. 2007 Aug;157 Suppl 1:S61-5. doi: 10.1530/EJE-07-0222. Eur J Endocrinol. 2007. PMID: 17785700
Biochemical tests in the diagnosis of childhood growth hormone deficiency.
Tillmann V, Buckler JM, Kibirige MS, Price DA, Shalet SM, Wales JK, Addison MG, Gill MS, Whatmore AJ, Clayton PE. Tillmann V, et al. Among authors: wales jk. J Clin Endocrinol Metab. 1997 Feb;82(2):531-5. doi: 10.1210/jcem.82.2.3750. J Clin Endocrinol Metab. 1997. PMID: 9024249
Isolated fructose malabsorption.
Wales JK, Primhak RA, Rattenbury J, Taylor CJ. Wales JK, et al. Arch Dis Child. 1990 Feb;65(2):227-9. doi: 10.1136/adc.65.2.227. Arch Dis Child. 1990. PMID: 2317071 Free PMC article.
Novel GLIS3 mutations demonstrate an extended multisystem phenotype.
Dimitri P, Warner JT, Minton JA, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW. Dimitri P, et al. Among authors: wales jk. Eur J Endocrinol. 2011 Mar;164(3):437-43. doi: 10.1530/EJE-10-0893. Epub 2010 Dec 7. Eur J Endocrinol. 2011. PMID: 21139041
An unusal case of hermaphroditism--a 46,XX/69,XXY chimera.
Wright NP, Wales JK. Wright NP, et al. Among authors: wales jk. J Pediatr Endocrinol Metab. 2004 Jun;17(6):905-8. doi: 10.1515/jpem.2004.17.6.905. J Pediatr Endocrinol Metab. 2004. PMID: 15270409 Free article.
167 results