Mutational Spectrum of the Succinate Semialdehyde Dehydrogenase (ALDH5A1) Gene and Functional Analysis of 27 Novel Disease-Causing Mutations in Patients with SSADH Deficiency

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto, Patrizia Malaspina, Gajja S. Salomons, George D. Maropoulos, Cornelis Jakobs, Markus Grompe, K. Michael Gibson

Research output: Contribution to journal › Article › peer-review

111 Scopus citations

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Medicine & Life Sciences