Concepedia

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy

Shuichi KURE, Yoshiyuki Sakata, Shigeaki Miyabayashi, Kazutoshi Takahashi, Toshikatsu Shinka, Y. Matsubara, Hisao Hoshino, Kuniaki Narisawa

Journal of Human Genetics · 1998 · 28 citations · 5 references

DOI

Concepts

References

5

PYRIDOXINE DEPENDENCY: REPORT OF A CASE OF INTRACTABLE CONVULSIONS IN AN INFANT CONTROLLED BY PYRIDOXINE

Andrew D. Hunt, Joseph Stokes, Wallace W. McCrory et al. · PEDIATRICS · 1954 · 415 citations

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Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

Gobinda Sarkar, Steve S. Sommer · Science · 1989 · 307 citations

, , +15

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

Shigeo Kure, M. Takayanagi, K. Narisawa et al. · Journal of Clinical Investigation · 1992 · 93 citations · Full text

, , +17

Reduced GABA synthesis in pyridoxine-dependent seizures

Sídney M. Gospe, K. L. Olin, Carl L. Keen · The Lancet · 1994 · 83 citations

, , +14

Pyridoxine Dependent Convulsion: Effect of Pyridoxine Therapy on Electroencephalograms

Kazuie Iinuma, Kuniaki Narisawa, Norio Yamauchi et al. · The Tohoku Journal of Experimental Medicine · 1971 · 10 citations · Full text

, , +14