A congenital variant of glycogenosis type IV.
A congenital variant of glycogenosis type IV.
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IV 型糖原增多症的先天性变异。
DOI：
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发表时间：
1993
期刊：
影响因子：
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通讯作者：
R. Hennekam
中科院分区：
文献类型：
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作者：
G. V. Noort;W. Straks;O. Diggelen;R. Hennekam
三个相关的患者描述与糖原症IV型不寻常的临床表现导致围产期死亡。储存的材料呈双折射马耳他交叉，存在于骨骼肌、心脏、中枢神经系统和肝脏。肌肉功能障碍导致胎儿运动能力低下并伴有关节挛缩和肺发育不全。根据发病年龄，将IV型糖原病分为四种亚型。目前，对不同组织中酶活性的测量不允许在亚型之间进行区分。
Three related patients are described with glycogenosis type IV with an unusual clinical presentation resulting in perinatal death. Stored material showed birefringent Maltese crosses and was present in skeletal muscles, heart, central nervous system, and liver. Muscular dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis and lung hypoplasia. A subdivision of glycogenosis type IV in four subtypes is proposed, based on age of onset. Measurement of the enzyme activities in different tissues does not permit, at the moment, a distinction between the subtypes.