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1 .
Mucopolysaccharidoses in 81 patients: Neurological aspects
저자
by
Natalya Zhurkova
;
Nato Vashakmadze
;
George Karkashadze
.
소스
Molecular Genetics and Metabolism
. 138:107368
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5 .
THE FIRST RUSSIA EXPERIENCE WITH THE USE OF ENZYME REPLACEMENT THERAPY WITH SEBELIPASE ALPHA IN A CHILD WITH AN INFANTILE FORM OF LYSOSOMAL ACID LIPASE DEFICIENCY
저자
by
AA Pushkov
;
E.A. Kulebina
;
G.B. Movsisyan
;
A.N. Surkov
;
A. S. Potapov
, et al.
소스
Pediatria. Journal named after G.N. Speransky
. 99:226-232
Scopus
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7 .
80 Genetics Heart and cardiovascular involvement in Russian patients with mucopolysaccharidosis: effects of enzyme replacement therapy
저자
by
Nato Vashakmadze
;
Grigory V. Revunenkov
;
Natalya Zhurkova
;
L.S. Namazova-Baranova
.
소스
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6 .
175 Very rare case of Noonan syndrome, type 2
저자
by
VP Miroshnichenko
;
TD Degtayreva
;
Natalya Zhurkova
;
AA Pushkov
;
EN Basargina
, et al.
소스
Abstracts
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7 .
Dynamics of clinical and laboratory indices in children with glycogen storage disease type I on comprehensive therapy
저자
by
Alexander Baranov
;
Anait K. Gevorkyan
;
G. V. Volynets
;
A. S. Karulina
;
AA Pushkov
, et al.
소스
Russian Pediatric Journal
. 19:324-331
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7 .
THE NEW GENOME VARIANTS IN RUSSIAN CHILDREN WITH GENETICALLY DETERMINED CARDIOMYOPATHIES REVEALED WITH MASSIVE PARALLEL SEQUENCING
저자
by
V. Yu. Lukanina
;
N. А. Sdvigova
;
I. S. Zhanin
;
Leyla Namazova-Baranova
;
Alexey Nikitin
, et al.
소스
Annals of the Russian academy of medical sciences
. 72:242-253
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Scopus
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7 .
OC8 High prevalence ofwt1gene mutations in patients with steroid-resistant nephrotic syndrome
저자
by
Anastasia Rykunova
;
Natalya Zhurkova
;
Peter Anan’in
;
Kirill Savostyanov
;
Alexander Pakhomov
, et al.
소스
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7 .
P111 Severe steatohepatitis as a sign of lysosomal acid lipase deficiency in a russian infant
저자
by
Ekaterina Brzhozovskaya
;
Aleksandr Pushkov
;
Goar Movsisyan
;
Kirill Savostyanov
;
Andrey Surkov
, et al.
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7 .
P44 Heart pathology in patients with syndrome maroto-lamy
저자
by
Elena Komarova
;
Leyla Namazova-Baranova
;
Anastasia Rykunova
;
Nato Vashakmadze
;
Tatiana Privalova
, et al.
소스
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.
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7 .
GP76 Experience in treatment of bladder exstrophy in newborn girl with apert syndrome
저자
by
Kirill Savostyanov
;
Alexander Pushkov
;
Natalya Zhurkova
;
Olga G. Mokrushina
;
Maria Sulavko
, et al.
소스
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