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

Authors: Akaboshi, S., Hogema, B. M., Novelletto, A., Malaspina, P., Salomons, G. S., Maropoulos, G. D., Jakobs, C., Grompe, M., Gibson, K. M.

Source: HUMAN MUTATION. 22(6):442-495

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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Authors: van Kuilenburg, A. B. P., Dobritzsch, D., Meinsma, R., Haasjes, J., Waterham, H. R., Nowaczyk, M. J. M., Maropoulos, G. D., Hein, G., Kalhoff, H., Kirk, J. M.

Source: BIOCHEMICAL JOURNAL -LONDON-. 364(1):157-163

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Disturbances of blood electrolytes (K, Na, Cl) concentrations, creatinine kinase and serum myoglobin after succinylcholine, a muscle relaxant anesthetic, administration to children

Authors: MATSOTA, P. K., MAROPOULOS, G. D., PAPAGEORGIOU-BROUSTA, M. K., AVGERINOPOULOU-VLACHOU, A. S., SKOUROU, D. I.

Source: ACTA MICROBIOLOGICA HELLENICA. 44(5):437-449

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Primary myopathies. Classification. Biochemical and histological investigation

Authors: Maropoulos, G. D., Kairis, M. Z., Deliyianni, V. A.

Source: ACTA MICROBIOLOGICA HELLENICA. 43(2):142-154

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Skeletal muscles. Structure and metabolism

Authors: Maropoulos, G. D., Kairis, M. Z., Deliyianni, V. A.

Source: ACTA MICROBIOLOGICA HELLENICA. 42(6):779-791

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN048213418&indx=1&recIds=ETOCRN048213418