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Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency

✍ Scribed by Erwin E.W. Jansen; Nanda M. Verhoeven; Cornelis Jakobs; Andreas Schulze; Henry Senephansiri; Maneesh Gupta; O. Carter Snead; K. Michael Gibson


Book ID
116270443
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
202 KB
Volume
1762
Category
Article
ISSN
0925-4439

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Mutational spectrum of the succinate sem
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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