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Кафедра медичної генетики
Наукові праці. Кафедра медичної генетики
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Issue Date
Title
Author(s)
2014
Case of the combination of cystic fibrosis with metabolic disorders of fatty acids and sulfur containing amino acids
Yanovska, Anna
;
Grechanina, Juliya
;
Grechanina, Elena
;
Zdybskaya, Elena
2017-09-10
Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunction
Grechanina, Elena
;
Grechanina, Juliya
2017-04-25
Selective screening of mitochondrial dysfunction in a region with a high level of neurological diseases
Grechanina, Elena
;
Grechanina, Juliya
2017-04-25
A rare disease of the mitochondrial respiratory chain – 3-methylglutaconic aciduria. Approach to diagnosis and rehabilitation
Grechanina, Elena
;
Grechanina, Juliya
;
Biletska, Svetlana
;
Maksutina, Irina
2014-06
Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome
Grechanina, Elena
;
Grechanina, Juliya
;
Zdybska, Olena
;
Kaniuka, Maksim
;
Molodan, Ludmila
;
Senatorova, Ganna
2014
An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description
Grechanina, Elena
;
Zdubskaya, Elena
2019-06-04
The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over time
Grechanina, Elena
;
Grechanina, Juliya
;
Matalon, Reuben
;
Delgado, Listvania
;
Tyring, Stephen
2014
A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son
Bugaeva, Olena
;
Grechanina, Elena
;
Grechanina, Juliya
Discover
Author
7
Grechanina, Juliya
1
Biletska, Svetlana
1
Bugaeva, Olena
1
Delgado, Listvania
1
Kaniuka, Maksim
1
Maksutina, Irina
1
Matalon, Reuben
1
Molodan, Ludmila
1
Senatorova, Ganna
1
Tyring, Stephen
.
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Subject
2
mitochondrial dysfunction
1
3-methylglutaconic aciduria
1
Canavan disease
1
chromosome 1
1
cystic fibrosis
1
Ehlers-Danlos syndrome
1
gas chromatography-mass spectrometry
1
HHH syndrome
1
homocitrullinuria
1
hyperammonemia
.
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Date issued
4
2014
3
2017
1
2019
Type
5
Article
3
Thesis
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