|1.||Dipple, Katrina M: 3 articles (01/2012 - 09/2004)|
|2.||Martínez-Castellano, F: 2 articles (11/2009 - 05/2007)|
|3.||Zhang, Yao-Hua: 2 articles (03/2007 - 09/2004)|
|4.||McCabe, Edward R B: 2 articles (03/2007 - 09/2004)|
|5.||Afenjar, Alexandra: 1 article (06/2015)|
|6.||Doummar, Diane: 1 article (06/2015)|
|7.||Hyon, Capucine: 1 article (06/2015)|
|8.||Siffroi, Jean-Pierre: 1 article (06/2015)|
|9.||Heide, Solveig: 1 article (06/2015)|
|10.||Chantot-Bastaraud, Sandra: 1 article (06/2015)|
|1.||Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/01/2005 - "Two novel mutations of DAX-1 were detected in 2 unrelated patients with AHC, and complete deletion of DAX-1 in a patient with Xp21 contiguous gene syndrome who also presented with glycerol kinase deficiency, Duchenne muscular dystrophy, and AHC."
06/01/2000 - "Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome."
12/15/1994 - "AHC can occur as a part of a contiguous deletion syndrome together with Duchenne muscular dystrophy (DMD) and/or glycerol kinase deficiency (GKD). "
02/01/1993 - "The gene for human glycerol kinase deficiency (GK) maps in Xp21.3 in a critical region of about 50-250 kb located distal to the Duchenne muscular dystrophy gene (DMD) by analysis of patient deletions and YAC contigs. "
07/31/1992 - "Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy."
|2.||Mental Retardation (Idiocy)
01/01/2012 - "Developmental retardation and intellectual disability occur often with complex glycerol kinase deficiency. "
09/01/2004 - "Clinical experience has suggested that patients with the contiguous gene syndrome, complex glycerol kinase deficiency (cGKD), will have mental retardation (MR) if they have deletions extending from the GK gene into the DMD gene and/or involving a significant extension telomeric from DAX1. "
09/01/2004 - "IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1."
01/01/2012 - "AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. "
05/01/1990 - "Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotropic hypogonadism. "
|3.||Adrenal Insufficiency (Adrenal Gland Hypofunction)
04/01/2005 - "The two last cases corresponded to a contiguous gene syndrome associating AHC to glycerol-kinase deficiency that was revealed respectively at six days and seven years of age by acute adrenal insufficiency."
09/01/1988 - "Glycerol kinase deficiency (GKD) is an X-linked recessive trait, and it may be associated with CHA and adrenal insufficiency, presumably because of deletion of adjacent X-linked loci. "
12/01/1986 - "Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies."
02/01/1986 - "Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion."
07/01/1984 - "[Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?]."
07/01/2008 - "Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis."
08/01/2010 - "Recently, great attention and extensive studies have been devoted to evaluate its therapeutic benefits on an array of diseased conditions including hypercholesterolemia, hyperglycerolemia, cardiovascular diseases, inflammatory diseases, cancer, and viral infections. "
|1.||X-linked adrenal hypoplasia congenita
|3.||DNA (Deoxyribonucleic Acid)
|6.||Complementary DNA (cDNA)
|9.||Fibric Acids (Fibrates)
|10.||DAX-1 Orphan Nuclear Receptor