Search Results - "Anastasiya, Kozina A."

Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report by Kozina, Anastasiya A, Trofimova, Tatiana A, Okuneva, Elena G, Baryshnikova, Natalia V, Obuhova, Varvara A, Krasnenko, Anna Yu, Tsukanov, Kirill Yu, Klimchuk, Olesya I, Surkova, Ekaterina I, Shatalov, Peter A, Ilinsky, Valery V

“…Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of…”
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Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers by Kozina, Anastasiya A., Okuneva, Elena G., Baryshnikova, Natalia V., Kondakova, Olga B., Nikolaeva, Ekaterina A., Fedoniuk, Inessa D., Mikhailova, Svetlana V., Krasnenko, Anna Y., Stetsenko, Ivan F., Plotnikov, Nikolay A., Klimchuk, Olesia I., Popov, Yaroslav V., Surkova, Ekaterina I., Shatalov, Peter A., Rakitko, Alexander S., Ilinsky, Valery V.

“…Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's…”
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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation by Anastasiya, Kozina A., Elena, Okuneva G., Natalia, Baryshnikova V., Anna, Krasnenko Yu, Kirill, Tsukanov Yu, Olesya, Klimchuk I., Tatiana, Nikishina A., Inessa, Fedoniuk D., Ekaterina, Surkova I., Peter, Shatalov A., Valery, Ilinsky V.

“…Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight…”
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Liddle syndrome due to a novel mutation in the [gamma] subunit of the epithelial sodium channel in family from Russia: a case report by Kozina, Anastasiya A, Trofimova, Tatiana A, Okuneva, Elena G, Baryshnikova, Natalia V, Obuhova, Varvara A, Krasnenko, Anna Yu, Tsukanov, Kirill Yu, Klimchuk, Olesya I, Surkova, Ekaterina I, Shatalov, Peter A, Ilinsky, Valery V

“…Background Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced…”
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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation by Anastasiya, Kozina A, Elena, Okuneva G, Natalia, Baryshnikova V, Anna, Krasnenko Yu, Kirill, Tsukanov Yu, Olesya, Klimchuk I, Tatiana, Nikishina A, Inessa, Fedoniuk D, Ekaterina, Surkova I, Peter, Shatalov A, Valery, Ilinsky V

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