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- W2315725971 abstract "Carl Henry Alstrom first described the syndrome in 1959. 1 It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as well as progressive renal and hepatic dysfunction. We present a case of Alstrom syndrome diagnosed in a 34 year old male subject followed by a brief review of its clinical presentation" @default.
- W2315725971 created "2016-06-24" @default.
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- W2315725971 date "2013-03-01" @default.
- W2315725971 modified "2023-09-27" @default.
- W2315725971 title "Alstrom syndrome – a diagnosis revisited" @default.
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- W2315725971 doi "https://doi.org/10.1177/1474651413478639" @default.
- W2315725971 hasPublicationYear "2013" @default.
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