1. Repository of Kharkiv National Medical University

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PreviewIssue DateTitleAuthor(s)
The discoverer of Canavan syndrome gene.pdf.jpg2019-06-04The discoverer of Canavan syndrome gene: how problems of diagnosis and treatment are being changed over timeGrechanina, Elena; Grechanina, Juliya; Matalon, Reuben; Delgado, Listvania; Tyring, Stephen
Тези(3).pdf.jpg2014Case of the combination of cystic fibrosis with metabolic disorders of fatty acids and sulfur containing amino acidsYanovska, Anna; Grechanina, Juliya; Grechanina, Elena; Zdybskaya, Elena
Тези(2).pdf.jpg2014An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case descriptionGrechanina, Elena; Zdubskaya, Elena
2017-04-25A rare disease of the mitochondrial respiratory chain – 3-methylglutaconic aciduria. Approach to diagnosis and rehabilitationGrechanina, Elena; Grechanina, Juliya; Biletska, Svetlana; Maksutina, Irina
Тези(4).pdf.jpg2014A child with combined chromosomal abnormalities, mitochondrial dysfunction and metabolic cobalamin disorderKvitchataya, Nataliya; Grechanina, Juliya; Yanovska, Anna
med290 Статья Ю.Б.ГРЕЧАНИНОЙ_128-end(1)_1-4.pdf.jpg2019-05-04Successful rehabilitation of patient disabled by the autistic spectrum disorder and the modified epigenetic staGrechanina, Juliya; Bugaeva, Olena; Lisniak, Svetlana; Staruseva, V.; Shmulich, O.
2017-09-10Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunctionGrechanina, Elena; Grechanina, Juliya
Титул содержание.pdf.jpg2014-06Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndromeGrechanina, Elena; Grechanina, Juliya; Zdybska, Olena; Kaniuka, Maksim; Molodan, Ludmila; Senatorova, Ganna
2017-04-25Selective screening of mitochondrial dysfunction in a region with a high level of neurological diseasesGrechanina, Elena; Grechanina, Juliya
Тези(10).pdf.jpg2014A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and sonBugaeva, Olena; Grechanina, Elena; Grechanina, Juliya

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