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- W2034672339 abstract "We observed three children in a Turkish family who from early childhood had deformations of the feet and torpid ulcers with subfocal osteomyelitis and osteolysis, which subsequently led to amputations. The fingers showed ainhumlike constriction bands and spontaneous amputations. Neurologic studies revealed an almost complete sensory and autonomic loss affecting all modalities and a marked involvement of motor fibers. The clinical symptoms fulfill many of the hallmarks of hereditary sensory and autonomic neuropathy type II, including autosomal recessive inheritance, onset of symptoms in childhood, and mutilating acropathy. A high urinary excretion of sphingomyelin and lecithin suggests that the pathogenic mechanism may be a disorder of phospholipid metabolism." @default.
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- W2034672339 date "1989-10-01" @default.
- W2034672339 modified "2023-10-18" @default.
- W2034672339 title "Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion" @default.
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- W2034672339 doi "https://doi.org/10.1016/s0190-9622(89)70247-4" @default.
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