Xp21 deletion involving Duchenne mmuscular dystrophy and glycerol kinase loci (CROSBI ID 471913)
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Podaci o odgovornosti
Barić, Ivo ; Sarnavka, Vladimir ; Lasan, Ružica ; Fumić, Ksenija ; Maradin, Miljenka ; Begović, Davor
engleski
Xp21 deletion involving Duchenne mmuscular dystrophy and glycerol kinase loci
Xp21 contiguous gene syndrome involves, to a variable extent, mostly congenital adrenal hypoplasia, duchenne muscular dystrophy and glycerol kkinase loci.Our patient belongs to a smaller subgroup of patients with only DMD and GK involved.Reporting tis case we would like to stress the importance of checking for glyceroluria in DMD patients. Early dignosis can prevent glycerol related metabolic crises and alow better insight of molecular pathology of these patients.
Xp21 deletion; Duchenne muscular dystophy; glycerol kinase loci
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
65-x.
1998.
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
Nepoznat skup
poster
29.02.1904-29.02.2096