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Original Article
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh
Clin Exp Pediatr. 2015;58(10):392-397.   Published online October 21, 2015
Purpose

Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis.

Methods

We conducted a retrospective study of 41 patients with Alagille syndrome...

Percutaneous Transluminal Balloon Valvuloplasty for Congenital Pulmonary Valve Stenosis.
Heung Jae Lee, Jae Kon Ko, Woong Heum Kim, Nam Su Kim, Chang yee Hong
Clin Exp Pediatr. 1988;31(7):822-832.   Published online July 31, 1988
During the period of 2 years, between January 1986 and December 1987, 36 patients, aged 2 years to 18 years, with congenital pulmonary valve stenosis(PVS) (with peak systolic transvalvar gradient over 30 mmHg) underwent percutaneous transluminal balloon valvuloplasty(TBV) at Sejong General Hospital m Korea. Of a group of 36 patients, 26 were treated successfully by the conventional balloon valve dilatation technique, and 6 were treated...