Importance of Cerebral Folate Deficiency for Development and Treatment of Autism Spectrum Disorder

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10287960" target="_blank" >RIV/00216208:11110/14:10287960 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/14:10287960 RIV/00216208:11130/14:10287960

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Importance of Cerebral Folate Deficiency for Development and Treatment of Autism Spectrum Disorder

Popis výsledku v původním jazyce

Autism or Autism Spectrum Disorders (ASD) is serious lifelong neurobehavioral impairment, significantly complicating the integration of an individual into the normal life. Etiology of ASD is usually complex combination of different disturbances, and remains unknown in a majority of cases. Cerebral Folate Deficiency (CFD) is a neurodegenerative syndrome characterized by reduced concentrations of metabolically active folate in cerebrospinal fluid (CSF) and normal serum levels in most cases. While a serious CFD can be easily diagnosed because of presence of obvious motor and sensory impairment, a mild CFD can play a role in the development of various behavioral disabilities including ASD with no apparent physical disability. Severity of CFD is highly variable. The CFD is usually partially, rarely completely, compensable syndrome and some publications reported also positive therapeutic effect on the core ASD symptoms (impaired communication, social interaction, abstraction and stereotypic

Název v anglickém jazyce

Importance of Cerebral Folate Deficiency for Development and Treatment of Autism Spectrum Disorder

Popis výsledku anglicky

Autism or Autism Spectrum Disorders (ASD) is serious lifelong neurobehavioral impairment, significantly complicating the integration of an individual into the normal life. Etiology of ASD is usually complex combination of different disturbances, and remains unknown in a majority of cases. Cerebral Folate Deficiency (CFD) is a neurodegenerative syndrome characterized by reduced concentrations of metabolically active folate in cerebrospinal fluid (CSF) and normal serum levels in most cases. While a serious CFD can be easily diagnosed because of presence of obvious motor and sensory impairment, a mild CFD can play a role in the development of various behavioral disabilities including ASD with no apparent physical disability. Severity of CFD is highly variable. The CFD is usually partially, rarely completely, compensable syndrome and some publications reported also positive therapeutic effect on the core ASD symptoms (impaired communication, social interaction, abstraction and stereotypic

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

IN - Informatika

OECD FORD obor

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Projekt

<a href="/cs/project/NT14200" target="_blank" >NT14200: Identifikace genetických defektů v rodinách pacientů s autismem</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

International Journal on Biomedicine and Healthcare

ISSN

1805-8698

e-ISSN

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Svazek periodika

2

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

10

Strana od-do

9-18

Kód UT WoS článku

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EID výsledku v databázi Scopus

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