- Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis
-
Hwang H, Lee JH, Choi YC
- KMID: 2418945
- Yonsei Med J.
- 2017 Sep;58(5):1051-1054.
- doi: 10.3349/ymj.2017.58.5.1051
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetic screening in young women diagnosed with endometrial cancer
-
Pecorino B, Rubino C, Guardalà FVF, Galia A, Scollo P
- KMID: 2413851
- J Gynecol Oncol.
- 2017 Jan;28(1):e4.
- doi: 10.3802/jgo.2017.28.e4
OBJECTIVE: To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer. METHODS: From 2007 to 2014, 41 patients affected... -
- CITED
-
- Close
- SHARE
-
- Close
- Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)
-
Choi MC, Lim MC, Suh DH, Song YJ, Kim TJ, Chang SJ, Kim JW, Korean Society of Gynecologic Oncology
- KMID: 2374238
- J Gynecol Oncol.
- 2016 Jul;27(4):e36.
- doi: 10.3802/jgo.2016.27.e36
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
-
Yoo HW, Astrin KH, Desnick RJ
- KMID: 1421957
- J Korean Med Sci.
- 1993 Feb;8(1):84-91.
- doi: 10.3346/jkms.1993.8.1.84
Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency... -
- CITED
-
- Close
- SHARE
-
- Close
