- Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family
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Kim HJ, Jeon BS
- KMID: 1064969
- J Korean Med Sci.
- 1998 Apr;13(2):196-200.
- doi: 10.3346/jkms.1998.13.2.196
Hereditary paroxysmal ataxia is a rare dominantly inherited disorder characterized by recurrent attacks of cerebellar ataxia, dysarthria, and nystagmus. Each attack lasts from several minutes to few hours or... -
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- Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
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Lee EH, Kim YH, Hwang JS, Kim SH
- KMID: 1713853
- J Korean Med Sci.
- 2010 Jan;25(1):172-175.
- doi: 10.3346/jkms.2010.25.1.172
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and... -
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