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- W2044172314 abstract "A sixty-one year old man is described who presents a disproportional dwarfism which simulates clinically one of the forms included in the Hurler syndrome. Unlike the chemically defined mucopolysaccharidoses comprising the various types of the Hurler syndrome, this patient excreted normal amounts of acid mucopolysaccharides but an abnormally large amount of an as yet undefined glycoprotein material in the urine. In this patient the clinical and roentgenologic features are entirely similar to those observed in the German family reported by Schinz and Fürtwängler [1], Schmidt [2], Horst [3] and Stens [4]. The antosomal recessive mode of transmission in this family may also be represented in the present case although the genetic record is inadequate to establish this beyond doubt. The mucopolysaccharidoses and the conditions of “pseudo-Hurler” type which simulate them are discussed with reference to clinical, roentgenological and chemical variations. Developments leading to the proposed classification for these diseases are presented." @default.
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- W2044172314 date "1966-03-01" @default.
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- W2044172314 title "A case simulating hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria" @default.
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- W2044172314 doi "https://doi.org/10.1016/0002-9343(66)90139-2" @default.
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