PMID: 26504125

Minute M, Patti G, Tornese G, Faleschini E, Zuiani C, Ventura A
Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy.
Pediatrics. 2015 Nov;136(5):e1373-6. doi: 10.1542/peds.2015-1132., [PubMed]
Sentences
No. Mutations Sentence Comment
16 ABCC8 p.Glu1506Lys
X
ABCC8 p.Glu1506Lys 26504125:16:77
status: NEW
view ABCC8 p.Glu1506Lys details
ABCC8 p.Glu1323Lys
X
ABCC8 p.Glu1323Lys 26504125:16:70
status: NEW
view ABCC8 p.Glu1323Lys details
 He was diagnosed with a double heterozygous ABCC8 biallelic mutation (E1323K/E1506K), encoding for the SUR1 subunit of the potassium channel; 18 F-L- dihydroxyphenylalanine positron emission tomography revealed diffuse pancreatic involvement, with no sign of focal lesions. Login to comment