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| Issue |
Title |
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| Vol 17, No 6 (2020) |
GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice |
Abstract
PDF (Rus)
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Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova |
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| Vol 16, No 1 (2019) |
Crouzon Syndrome: Clinical case |
Abstract
PDF (Rus)
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Nikolai I. Zryachkin, Tatyana N. Buchkova, Galina I. Chebotareva, Tatyana I. Kuleshova |
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| Vol 13, No 1 (2016) |
OSTEOGENESIS IMPERFECTA IN CHILDREN IN THE RUSSIAN FEDERATION: RESULTS OF THE FEDERAL REGISTRY AUDIT |
Abstract
PDF (Rus)
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G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margiyeva, O. V. Chumakova |
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| Vol 8, No 4 (2011) |
CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS |
Abstract
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M.V. Tural'chuk, G.A. Novik, A.Ya. Gudkova |
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| Vol 8, No 3 (2011) |
MUCOPOLYSACCHARIDOSIS TYPE II |
Abstract
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N.D. Vashakmadze, L.S. Namazova-Baranova, A.K. Gevorkyan, L.M. Kuzenkova, A.D. Khristochevskiy, L.M. Vysotskaya, A.S. Dadashev |
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| Vol 8, No 6 (2011) |
NPD TYPE C — WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS |
Abstract
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L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan |
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| Vol 7, No 1 (2010) |
COMMENTS ON THE ARTICLE «RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE» |
Abstract
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L.S. Namazova-Baranova |
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| Vol 7, No 1 (2010) |
RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE |
Abstract
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James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm |
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| Vol 7, No 3 (2010) |
INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME): CLINICAL AND GENETIC ASPECTS |
Abstract
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M.Yu. Kagan |
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| Vol 7, No 5 (2010) |
NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES |
Abstract
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S.V. Mikhailova, E.Yu. Zakharova, T.M. Bukina, D.A. Savin, S.V. Piliya, A.S. Petrukhin |
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| Vol 12, No 5 (2015) |
New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review |
Abstract
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G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margieva |
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| Vol 12, No 5 (2015) |
Contemporary Understanding of Diagnosis and Treatment of Children with Cystic Fibrosi |
Abstract
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A. A. Baranov, L. S. Namazova-Baranova, O. I. Simonova, N. Y. Kashirskaya, E. A. Roslavtseva, Y. V. Gorinova, S. A. Krasovskiy, L. R. Selimzyanova |
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| Vol 12, No 1 (2015) |
CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA |
Abstract
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PDF (Eng)
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G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan |
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| Vol 11, No 5 (2014) |
ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE |
Abstract
ENGLISH VERSION (Eng)
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E. N. Basargina, E. N. Arkhipova, V. S. Ermolenko |
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| Vol 11, No 4 (2014) |
MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM |
Abstract
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O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov |
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| Vol 11, No 3 (2014) |
USE OF TACROLIMUS IN CHILDREN FOR TRANSPLANTATION OF KIDNEYS TAKEN FROM LIVE RELATIVE DONORS |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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V. A. Goryainov, M. M. Kaabak, N. N. Babenko, M. M. Morozova, E. N. Platova, L. I. Agureeva, V. V. Panin, O. V. Dymova |
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| Vol 11, No 2 (2014) |
EXPERIENCE OF INTRAMUSCULAR METHOTREXATE USE IN A PATIENT WITH EARLY POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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E. I. Alexeeva, T. V. Sleptsova, T. M. Bzarova, S. I. Valieva, R. V. Denisova, K. B. Isaeva, E. V. Mitenko, E. G. Chistyakova, A. M. Chomakhidze, A. N. Fetisova, O. L. Lomakina, N. I. Taybulatov |
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| Vol 11, No 2 (2014) |
WILSON-MIKITY SYNDROME – A RARE INTERSTITIAL PULMONARY DISEASE IN NEONATES |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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D. Yu. Ovsyannikov, M. A. Belyashova, A. A. Krushelnitskiy, A. A. Avakyan, N. O. Zaytseva, E. A. Degtyaryova |
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| Vol 11, No 1 (2014) |
PAUCIARTICULAR JUVENILE ARTHRITIS WITH ANF-ASSOCIATED UVEITIS: CLINICAL OBSERVATION OF A FAMILY CASE (MOTHER AND DAUGHTER) WITH ANKYLOSING SPONDYLITIS IN OUTCOME IN THE MOTHER |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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I. P. Nikishina, S. V. Arsenyeva, D. L. Alexeyev, A. V. Smirnov |
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| Vol 11, No 1 (2014) |
PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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L. D. Fominykh, G. V. Solovyeva, M. L. Vyaznikova, N. G. Muratova, T. E. Serebrenikova, E. A. Kostyuchek |
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| Vol 10, No 6 (2013) |
OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN WITH TYPE II MUCOPOLYSACCHARIDOSIS (HUNTER SYNDROME) |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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N. D. Vashakmadze, L. S. Namazova-Baranova, A. K. Gevorkyan, V. V. Altunin, L. M. Kuzenkova, E. G. Chernavina, M. A. Babaykina, T. V. Podkletnova, O. V. Kozhevnikova |
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| Vol 10, No 6 (2013) |
GAUCHER’S DISEASE |
Abstract
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O. S. Gundobina, E. V. Komarova, L. S. Namazova-Baranova, А. K. Gevorkyan, G. B. Movsisyan |
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| Vol 10, No 5 (2013) |
EXPERIENCE OF METHOTREXATE USE IN A PATIENT WITH SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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T. V. Sleptsova, E. I. Alexeeva, R. V. Denisova, S. I. Valieva, T. M. Bzarova, K. B. Isaeva, E. V. Mitenko |
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| Vol 10, No 4 (2013) |
ANETODERMA CASE IN A PREMATURE INFANT |
Abstract
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E. I. Pilguy, L. K. Aslamazyan, A. K. Gevorkyan, Y. V. Rovenskaya |
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| Vol 10, No 4 (2013) |
HYPOPHOSPHATEMIC RICKETS |
Abstract
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N. N. Kartamysheva, T. V. Vashurina, O. I. Zrobok, T. S. Voznesenskaya, M. V. Matveeva, T. V. Margieva, E. N. Tsygina, M. S. Kurilenko, T. V. Sergeeva, A. N. Tsygin |
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| Vol 10, No 1 (2013) |
RARE PRIMARY IMMUNODEFICIENCY – HYPER-IgE-SYNDROME: CASE REPORT AND LITERATURE REVIEW |
Abstract
ENGLISH VERSION (Eng)
PDF (Rus)
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Nikolai Vasil'evich Sobotyuk, E. A. Potrokhova, S. A. Golochalova, S. V. Bochantsev, T. N. Kharlamova, Y. A. Stroylova |
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| Vol 9, No 6 (2012) |
RECOMMENDATIONS ON DIAGNOSTICS AND TACTICS OF MANAGEMENT OF NIEMANN-PICK DISEASE, TYPE C |
Abstract
PDF (Rus)
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L. M. Kuzenkova, L. S. Namazova-Baranova, A. K. Gevorkyan, T. V. Podkletnova, A. M. Mamedyarov |
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| Vol 11, No 6 (2014) |
BRAIN–LUNG–THYROID SYNDROME |
Abstract
PDF (Rus)
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M. A. Belyashova, D. Yu. Ovsyannikov |
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