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ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT
Bagomedova Z.S., Kotov A.S., Borisova M.N., Panteleeva M.V., Zhurkova N.V., Byome A.A., Kotalevskaya Y.Y., Mironova O.S., Razheva I.V.
Wernicke encephalopathy in combination with acute polyneuropathy under the guise of a demyelinating disease in a teenager with an eating disorder
Ovchinnikova E.O., Kotov A.S., Panteleeva M.V., Mukhina E.V.
Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease)
Lyukshina N.G.
Difficulties of diagnostics of epilepsy due to molybdenum cofactor deficiency: a case report
Malov A.G., Karakulova Y.V., Severino M., Kravtsov Y.I.
Glucose transporter deficiency syndrome type 1: a case report
Kulish E.A., Kotov A.S., Mukhina E.V., Kotalevskaya Y.Y., Svetlichnaya D.V., Panteleeva M.V.
Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
Sharkova I.V., Akimova I.A., Khlebnikova O.V., Dadali E.L.
Attention deficit hyperactivity disorder: new in understanding and treatment approaches
Morozova E.A., Madyakina A.A.
Paroxysmal disorders in children receiving substitution therapy with vitamin B12
Barkhatov M.V., Falaleeva S.O., Shishkina E.V., Denisova Y.E., Borisova E.V., Krasitskiy A.I., Makarevskaya N.Y.
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