Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

被引：0
|
作者：
Kapoor, Ritika R. [1 ,2 ]
Flanagan, Sarah E. [3 ]
Fulton, Piers [3 ]
Chakrapani, Anupam [4 ]
Chadefaux, Bernadette [5 ]
Banerjee, Indraneel [6 ,7 ]
Shield, Julian P. [8 ]
Ellard, Sian [3 ]
Hussain, Khalid [1 ,2 ]
机构：
[1] Inst Child Hlth, London Ctr Paediat Endocrinol & Metab, London, England
[2] Great Ormond St Hosp Sick Children, London WC1N 3JH, England
[3] Peninsula Med Sch, Inst Biomed Clin Sci, Exeter, Devon, England
[4] Birmingham Childrens Hosp, Dept Inherited Metabol Disorders, Birmingham, W Midlands, England
[5] Hop Necker Enfants Malad, Paris, France
[6] Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester M27 1HA, Lancs, England
[7] Alder Hey Childrens Hosp, Manchester, Lancs, England
[8] Bristol Royal Hosp Children, Dept Child Hlth, Bristol, Avon, England
来源：
HORMONE RESEARCH | 2009年 / 72卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：298 / 298
页数：1
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