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2型岩藻糖苷贮积症的X线表现

Roentgenographic findings in fucosidosis type 2.

作者信息

Brill P W, Beratis N G, Kousseff B G, Hirschhorn K

出版信息

Am J Roentgenol Radium Ther Nucl Med. 1975 May;124(1):75-82. doi: 10.2214/ajr.124.1.75.

Abstract

The roentgen findings are described in 2 siblings with fucosidosis Type 2. They have mild dysostosis multiplex with predominant involvement of the spine, pelvis, and femoral capital epiphyses. The roentgen descriptions of the previously reported cases are reviewed. Based on the descriptive data currently available, there are no consistent differences which would permit the distinction of fucosidosis Type 1 from Type 2 on roentgen grounds.

摘要

本文描述了2例2型岩藻糖苷贮积症患儿的X线表现。他们有轻度多发性骨发育异常,主要累及脊柱、骨盆和股骨头骨骺。本文回顾了既往报道病例的X线描述。基于目前可得的描述性数据,在X线表现上没有一致的差异可以用于区分1型和2型岩藻糖苷贮积症。

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Roentgenographic findings in fucosidosis type 2.2型岩藻糖苷贮积症的X线表现
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Enzyme activity in fucosidosis.岩藻糖苷贮积症中的酶活性。
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Fucosidosis: How many cases undetected?岩藻糖苷贮积症:有多少未被发现的病例?
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引用本文的文献

1
Radiographic features of fucosidosis.
Pediatr Radiol. 1977;5(4):204-8. doi: 10.1007/BF00972177.

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