Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.
نویسندگان
چکیده
R Zannolli, V Micheli, M A Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, P Terrosi Vagnoli, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A B Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J A Swift, M Zappella, G Morgese . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Pachyonychia congenita type II: report of a case
Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...
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متن کاملIdentification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
Hereditary xanthinuria is classified into three categories. Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. In the present study, we examined four individuals with classical xanthinuria to discover the cause of the enzyme deficiency at the molecular level. One subject had...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 40 11 شماره
صفحات -
تاریخ انتشار 2003