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Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis

✍ Scribed by Masashi Suzuki; Maria Helena Vaisbich; Hideomi Yamada; Shoko Horita; Yuehong Li; Takashi Sekine; Nobuo Moriyama; Takashi Igarashi; Yoko Endo; Thaís P. Cardoso; Luis Carlos F. de Sá; Vera H. Koch; George Seki; Toshiro Fujita

Publisher
Springer
Year
2007
Tongue
English
Weight
398 KB
Volume
455
Category
Article
ISSN
0031-6768

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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from