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Isolated and contiguous glycerol kinase gene disorders: a review.
Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types. an isolated form and a complex form. ...From molecular genetic investigations of isolated GKD, 7 missense mutations, 2 splice site mutations, I nonsense mut
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types. an isolated form and a
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Wibmer T, Otto J, Parhofer KG, Otto C. Wibmer T, et al. Exp Clin Endocrinol Diabetes. 2005 Jul;113(7):396-403. doi: 10.1055/s-2005-865723. Exp Clin Endocrinol Diabetes. 2005. PMID: 16025401 Review.
Glycerol kinase deficiency is a rarely diagnosed X-linked recessive disorder which occurs as a complex form together with the adrenal hypoplasia congenita (AHC) or with Duchenne muscular dystrophy (DMD) or as an isolated form either symptomatic or asym
Glycerol kinase deficiency is a rarely diagnosed X-linked recessive disorder which occurs as a complex form together wi
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. Vilain E, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. doi: 10.1210/jcem.84.12.6186. J Clin Endocrinol Metab. 1999. PMID: 10599684 Review.
The patients had documented or suspected hypercalciuria and/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and spleen calcifications in another. AHC presents most often either as an isolated abnormality, caused by mutations in the DAX1 gene, o …
The patients had documented or suspected hypercalciuria and/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and …