CLINICAL AND GENETIC CHARACTERISTICS OF MUCOLIPIDOSIS II AND IIIA TYPES IN CHILDREN

The article is devoted to a rare pathology from a group of accumulation diseases with an autosomal recessive type of inheritance – mucolipidosis II and IIIA types. The disease is characterized by a greater phenotypic similarity to mucopolysaccharidosis.Objective: analysis of genophenotypic parameter...

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Hlavní autoři: A. N. Semyachkina, E. Yu. Voskoboeva, Т. M. Bukina, A. M. Bukina, E. A. Nikolaeva, I. S. Dantsev, M. N. Kharabadze, Yu. I. Davydova
Médium: Artigo
Jazyk:Russo
Vydáno: Ltd. “The National Academy of Pediatric Science and Innovation” 2017-06-01
Edice:Rossijskij Vestnik Perinatologii i Pediatrii
Témata:
children
type ii mucolipidosis
type iii mucolipidosis
gnptab gene
mutations p.s738x
c. 3503_3504deltc
lysosomal enzymes
and diagnosis
On-line přístup:https://www.ped-perinatology.ru/jour/article/view/502
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