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Коррекция недостаточности карнитина у детей с наследственными заболеваниями обмена веществ

Коррекция недостаточности карнитина у детей с наследственными заболеваниями обмена веществ

Abstract

The authors analyse herein their own findings and literature-derived data concerning the forms and causes of carnitine insufficiency in children. They turned out to have revealed a low level of total carnitine in blood in 16 patients with hereditary metabolic pathology, including newly onset carnitine insufficiency if children with the Marfan syndrome and type 1 autoimmune poly-endocrine syndrome, having shown high efficiency of using Elcar for correction of carnitine deficiency in children.

Представлен анализ собственных данных и сведений литературы о формах и причинах недостаточности карнитина у детей. Выявлен низкий уровень общего карнитина в крови у 16 пациентов с наследственной патологией обмена веществ, в том числе впервые установлена недостаточность карнитина у детей с синдромом Марфана и аутоиммунным полиэндокринным синдромом I типа. Продемонстрирована эффективность использования Элькара для коррекции дефицита карнитина у детей.

Keywords

КАРНИТИН, МИТОХОНДРИАЛЬНЫЕ БОЛЕЗНИ, ОРГАНИЧЕСКИЕ АЦИДЕМИИ, СИНДРОМ МАРФАНА, АУТОИММУННЫЙ ПОЛИЭНДОКРИННЫЙ СИНДРОМ I ТИПА

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold