Quick search
Advanced search in
Field to searchTerm
Add rule
Download Results
10 research outcomes, page 1 of 1
  • publication . Other literature type . Article . 2019
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>The article presents a clinical study of an infant with rare inherited metabolism disorder – molybdenum cofactor deficiency, for the first time in Russian literature. The onset of disorder – in early neonatal period with a suppression syndrome and myoclonic seiz...

    Add to ORCID
  • publication . Article . Other literature type . 2016
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet ...

    Add to ORCID
  • publication . Article . Other literature type . 2020
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p>We performed clinical examination of 60 children and adolescents in remission followed up in Research Institute of Pediatric Oncology and Hematology, N.N. Blokhin National Medical Research Center of Oncology. All patients were found to have complex organic disor...

    Add to ORCID
  • publication . Other literature type . Article . 2019
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>Despite significant advances in epileptology, approximately one-third of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there are still many patients with treatment-resistant epilepsy, in who...

    Add to ORCID
  • publication . Article . Other literature type . 2019
    Open Access Russian
    Persistent Identifiers
    Publisher: ABV-press

    <jats:p>Benign infantile seizures associated with mild gastroenteritis are a special type of situationally determined seizures in infants. Usually, clinical manifestations are observed between 4 month and 3 years of age, most commonly during the second year of life. Vom...

    Add to ORCID
  • publication . Other literature type . Article . 2019
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare genetic di...

    Add to ORCID
  • publication . Other literature type . Article . 2020
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p>Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is ...

    Add to ORCID
  • publication . Article . Other literature type . 2017
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    There has been recently an increase in the number of children diagnosed with delayed speech development. There is delay compensation with age, but mild deficiency often remains for life. Delayed speech development is more common in boys than in girls. Its etiology is un...

    Add to ORCID
  • publication . Other literature type . Article . 2019
    Open Access
    Authors:
    Leanid Shalkevich; Leanid Shalkevich; Leanid Shalkevich; Olga Lvova; Olga Lvova;
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    This study was aimed to assess electrophysiological brain activity in newborns of various gestational ages using electroencephalography (EEG). We summarized the data on the main EEG characteristics of premature infants and their dynamics and described the most common pa...

    Add to ORCID
  • publication . Other literature type . Article . 2020
    Open Access
    Persistent Identifiers
    Publisher: Publishing House ABV Press

    <jats:p><jats:bold>Background</jats:bold>. In the pathogenesis of cerebral palsy, the pathology of the proprioceptive modality plays an important role. Proprioceptive correction is an effective method for habilitation of children suffering from this disease. "Stimulatio...

    Add to ORCID
10 research outcomes, page 1 of 1