- Janecke A, Bosshard N, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, et al. Molecular diagnosis of type 1c glycogen storage disease. Hum Genet. 1999;104:275-7 pubmed....
- Janecke A, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet. 2000;107:285-9 pubmed..Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients. ..
- Janecke A, Nekahm D, Löffler J, Hirst Stadlmann A, Muller T, Utermann G. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. Hum Genet. 2001;108:269-70 pubmed..This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case. ..