- Fumarase Deficiency with Spastic Quadriplegia: A case report
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Jung KH, Park JH, Ko YJ, Lee SE
- KMID: 2323513
- J Korean Acad Rehabil Med.
- 2000 Aug;24(4):793-798.
Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It... -
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- Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients
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Choi Y, Keam B, Kim M, Yoon S, Kim D, Choi JG, Seo JY, Park I, Lee JL
- KMID: 2460603
- Cancer Res Treat.
- 2019 Oct;51(4):1549-1556.
- doi: 10.4143/crt.2019.086
PURPOSE: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic syndrome resulting from germline mutations in fumarate hydratase. The combination of bevacizumab plus erlotinib showed promising interim results... -
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- Multiple Cutaneous Leiomyoma Derived from the Mutation in Fumarate Hydratase Gene: A Case Report
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Kim YS, Tak KS, Cho CN, Chung CM, Oh SJ, Lee MJ
- KMID: 2098523
- J Korean Soc Plast Reconstr Surg.
- 2007 Sep;34(5):659-662.
PURPOSE: Multiple skin leiomyoma and uterine myoma bearing autosomal dominant traits are benign smooth muscle tumors which originate in skin or female uterus. Skin leiomyoma occurs after gene mutation originating... -
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- A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant
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Choi DY, Kim JS, Shin YJ, Park HJ, Lee IK
- KMID: 2329326
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):257-261.
Fumaric aciduria(fumarase deficiency) is a rare inborn error of metabolism resulted from a deficiency of fumarase, one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Enzyme deficiency causes... -
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