共 106 条
[1]
Puy H(2010)Porphyrias Lancet. 375 924-937
[2]
Gouya L(2013)The incidence of inherited porphyrias in Europe J Inherit Metab Dis 36 849-857
[3]
Deybach JC(2006)Modern diagnosis and management of the porphyrias Br J Haematol 135 281-292
[4]
Elder G(2000)Women’s experience of suffering repeated severe attacks of acute intermittent porphyria J Adv Nurs 32 1348-1355
[5]
Harper P(2001)Self-rated psychosocial consequences and quality of life in the acute porphyrias J Inherit Metab Dis 24 733-747
[6]
Badminton M(2005)Anxiety and depression in the acute porphyrias J Inherit Metab Dis 28 1099-1107
[7]
Sandberg S(1997)Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France J Intern Med 242 213-217
[8]
Deybach JC(1992)Frequency of low erythrocyte porphobilinogen deaminase activity in Finland J Intern Med 231 389-395
[9]
Sassa S(2016)Acute intermittent porphyria: predicted pathogenicity of HMBS variants indicates extremely low penetrance of the autosomal dominant disease Hum Mutat 37 1215-1222
[10]
Wikberg A(2005)An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity Medicine. 84 48-60