首页   按字顺浏览 期刊浏览 卷期浏览 A Case With the Infantile Type of Glycerol Kinase Deficiency
A Case With the Infantile Type of Glycerol Kinase Deficiency

 

作者: Hiroaki Kakinuma,   Fumiko Nakamura,   Shjgeo Murayama,   Jun Goto,   Imaharu Nakano,   Fumiko Saito,   Akira Ohtake,   Masaki Takayanagi,   Hironori Nakajima,  

 

期刊: Pediatrics International  （WILEY Available online 1987）
卷期: Volume 29, issue 3  

页码: 465-468

 

ISSN:1328-8067

 

年代: 1987

 

DOI:10.1111/j.1442-200X.1987.tb00347.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Glycerol kinase deficiency;Adrenal insufficiency;Duchenne type muscular dystrophy;Xp21 deletion

 

数据来源: WILEY

 

摘要:

AbstractA male infant with the infantile type of glycerol kinase deficiency is described. At six years of age, he showed proximal dominant muscle atrophy and weakness, addisonian pigmentation and mental retardation. Laboratory investigations revealed muscular dystrophy, adrenal insufficiency and glycerol kinase deficiency. He has a small deletion in a band (Xp21) of the X chromosome. The clinical, biochemical and genetic findings in this patient are reported.

 

点击下载:  PDF (604KB)



返 回