Parkinsonism may be part of the symptom complex of DOOR syndrome(260 views) Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Biostructure and Bioimaging Institute, CNR, Naples, Italy.
References: James, A.W., Miranda, S.G., Culver, K., Hall, B.D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Rajab, A., Riaz, A., Paul, G., Al-Khusaibi, S., Chalmers, R., Patton, M.A., Further delineation of the DOOR syndrome (2000) Clin Dysmorphol, 9, pp. 247-251
Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q.H., Tuchman, R., Rady, P.L., DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex (2002) Am J Med Genet, 113, pp. 371-374
Gascon, G.G., Ozand, P.T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
van Bever, Y., Balemans, W., Duval, E.L., Jespers, A., Eyskens, F., van Hul, W., Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome (2007) Am J Med Genet A, 143, pp. 763-767
James, A. W., Miranda, S. G., Culver, K., Hall, B. D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Gascon, G. G., Ozand, P. T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
Parkinsonism may be part of the symptom complex of DOOR syndrome
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Parkinsonism may be part of the symptom complex of DOOR syndrome
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Parkinsonism may be part of the symptom complex of DOOR syndrome