지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 244 - 247 (4page)
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초록· 키워드
오류제보하기
Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy baby who is no affected with CTLN1. One unaffected blastocyst was transferred. This resulted in a clinical pregnancy and the live birth of healthy male twin. They were confirmed to be unaffected with CTNL1 by post natal diagnosis. This is the first case report of the use of PGD for CTNL1.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
/ 2012 / Mother and Child Health Law. No. 11441, Article 14-1
Batshaw ML / 2001 / Alternative pathway therapy for urea cycle disorders: twenty years later / J Pediatr 138 (1 Suppl) : S46 ~ S54
Brunetti-Pierri N / 2012 / 30-year follow-up of a patient with classic citrullinemia / Mol Genet Metab 106 : 248 ~ 250
Brusilow SW / 1996 / Urea cycle disorders: diagnosis, pathophysiology, and therapy / Adv Pediatr 43 : 127 ~ 170
Engel K / 2009 / Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene / Hum Mutat 30 : 300 ~ 307
Batshaw ML / 2001 / Alternative pathway therapy for urea cycle disorders: twenty years later / J Pediatr 138 (1 Suppl) : S46 ~ S54
Brunetti-Pierri N / 2012 / 30-year follow-up of a patient with classic citrullinemia / Mol Genet Metab 106 : 248 ~ 250
Brusilow SW / 1996 / Urea cycle disorders: diagnosis, pathophysiology, and therapy / Adv Pediatr 43 : 127 ~ 170
Engel K / 2009 / Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene / Hum Mutat 30 : 300 ~ 307
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