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| Issue |
Title |
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| Vol 62, No 5 (2017) |
Williams syndrome in a child with a multiple organ pathology |
Abstract
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T. V. Mihajlova, D. I. Sadykova, T. V. Pudovik |
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| Vol 62, No 5 (2017) |
Phenylketonuria in children: modern aspects of pathogenesis, clinic, treatment |
Abstract
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S. Ja. Volgina, S. Sh. Yafarova, G. R. Kletenkova |
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| Vol 62, No 5 (2017) |
Family hypercholesterolaemia at children: clinic, diagnostics, treatment |
Abstract
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D. I. Sadykova, L. F. Galimova |
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| Vol 62, No 5 (2017) |
Clinical case of Mitochondrial DNA Depletion |
Abstract
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A. V. Degtyareva, E. V. Stepanova, Yu. S. Itkis, E. I. Dorofeeva, M. V. Narogan, L. V. Ushakova, A. A. Puchkova, V. G. Bychenko, P. G. Tsygankova, T. D. Krylova, I. O. Bychkov |
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| Vol 62, No 4 (2017) |
DIFFERENTIAL DIAGNOSIS OF NERVOUS SYSTEM DEMYELINATIVE DISEASES IN CHILDREN: CLINICAL CASE OF X-ASSOCIATED ADRENOLEUCODYSTROPHY |
Abstract
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E. Yu. Skripchenko, N. V. Skripchenko, A. I. Aksenova, A. V. Minin, E. N. Imyanitov, T. A. Kozlova, N. V. Marchenko |
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| Vol 62, No 4 (2017) |
LATEST DIAGNOSIS OF NEUROPHYBROMATOSIS I TYPE IN 14-YEAR-OLD BOY |
Abstract
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D. I. Sadykova, L. Z. Safina, R. A. Kadyrmetov |
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| Vol 62, No 4 (2017) |
PSEUDOHYPOPARATHYROIDISM Ia TYPE WITH EARLY DEBUT IN SISTERS OF ONE FAMILY |
Abstract
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L. V. Tyrtova, A. S. Olenev, L. V. Ditkovskaja, N. V. Parshina, E. N. Suspitsin |
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| Vol 62, No 4 (2017) |
MODERN APPROACHES TO THE TREATMENT OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA |
Abstract
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I. V. Leontyeva |
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| Vol 62, No 3 (2017) |
CLINICAL AND GENETIC CHARACTERISTICS OF MUCOLIPIDOSIS II AND IIIA TYPES IN CHILDREN |
Abstract
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A. N. Semyachkina, E. Yu. Voskoboeva, Т. M. Bukina, A. M. Bukina, E. A. Nikolaeva, I. S. Dantsev, M. N. Kharabadze, Yu. I. Davydova |
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| Vol 62, No 3 (2017) |
PROTEINURIA AND B12-DEFICIENCY ANEMIA IN THE STRUCTURE OF IMERSLUND–GRASBECK SYNDROME: CASE REPORT |
Abstract
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E. F. Andreeva, N. D. Savenkova, A. A. Myasnikov, E. N. Suspitsyn, E. R. Kharysova |
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| Vol 61, No 6 (2016) |
THE CLINICAL AND GENETIC CHARACTERISTICS AND OUTCOMES OF MECONIUM ILEUS IN CYSTIC FIBROSIS |
Abstract
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E. I. Kondratyeva, V. D. Sherman, E. L. Amelina, A. Yu. Voronkova, S. A. Krasovsky, N. Yu. Kashirskaya, N. V. Petrova, A. V. Chernyak, N. I. Kapranov, V. S. Nikonova, L. A. Shabalova |
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| Vol 61, No 5 (2016) |
An algorithm for the diagnosis of X-linked intellectual disability in children |
Abstract
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V. Yu. Voinova, S. G. Vorsanova, Yu. B. Yurov, I. Yu. Yurov |
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| Vol 61, No 5 (2016) |
Rare variants of mitochondrial DNA in a child with encephalomyopathy |
Abstract
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A. S. Voronkova, N. A. Litvinova, E. A. Nikolaeva, V. S. Sukhorukov |
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| Vol 61, No 5 (2016) |
Beals syndrome (congenital contractural arachnodactyly) in children: Clinical symptoms, diagnosis, treatment, and prevention |
Abstract
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A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov |
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| Vol 61, No 3 (2016) |
Polymorphism of the clinical manifestations of progressive mitochondrial encephalomyopathy associated with POLG1 gene mutation |
Abstract
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M. I. Yablonskaya, E. A. Nikolaeva, P. A. Shatalov, M. N. Kharabadze |
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| Vol 59, No 5 (2014) |
Undifferentiated connective tissue dysplasia in adolescents |
Abstract
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G. Yu. Kalayeva, O. I. Khokhlova |
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| Vol 59, No 5 (2014) |
Severe Bloch—Sulzberger syndrome in a newborn baby |
Abstract
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T. I. Chernikova, L. A. Shepilov, T. N. Vasina, T. I. Zubtsova, S. N. Stavtseva, A. V. Vislobokov |
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| Vol 59, No 5 (2014) |
Epilepsy in biotinidase deficiency |
Abstract
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A. G. Malov, E. S. Vasilyeva, E. B. Serebrennikova |
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| Vol 60, No 5 (2015) |
Diagnostic value of blood coenzyme Qlo levels in children with mitochondrial diseases |
Abstract
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E. A. Nikolaeva, M. N. Kharabadze, I. V. Zolkina, T. E. Kulagina, T. N. Vasina, S. N. Stavtseva, P. B. Glagovsky, I. S. Mamedov, P. V. Novikov |
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| Vol 60, No 5 (2015) |
Tissue-specific features of mitochondrial DNA polymorphisms |
Abstract
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N. A. Litvinova, A. S. Voronkova, E. A. Nikolaeva, V. S. Sukhorukov |
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| Vol 60, No 3 (2015) |
The frequency of genetic markers of the folate cycle in newborns with intrauterine growth retardation |
Abstract
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A. N. Ni, T. Yu. Fadeeva, T. G. Vasilyeva, S. N. Shishatskaya |
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| Vol 60, No 3 (2015) |
Diagnosis of the clinical polymorphism of glucose-6-phosphate dehydrogenase deficiency in patients with hyperbilirubinemia |
Abstract
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G. A. Akperova |
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| Vol 60, No 4 (2015) |
Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
Abstract
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M. I. Yablonskaya, P. V. Novikov, E. G. Agapov, I. V. Zolkina, E. A. Yuryeva, M. N. Kharabadze |
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| Vol 60, No 4 (2015) |
Differential approach to treating life-threatening arrhythmogenic conditions in patients with X-linked Emery—Dreifuss myopathy |
Abstract
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O. S. Groznova, G. E. Rudenskaya, T. A. Adyan, D. A. Kharlamov |
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| Vol 60, No 4 (2015) |
Limb-girdle muscular dystrophy type 2A (calpainopathy) |
Abstract
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T. I. Baranich, S. B. Artemyeva, N. V. Kleimenova, L. A. Khavkhun, D. V. VIodavets, D. O. Kazakov, P. A. Shatalov, E. B. Litvinova, I. V. Shulyakova, A. V. Brydun, V. V. Glinkina, V. S. Sukhorukov |
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| Vol 60, No 4 (2015) |
Lysosome-associated hypertrophic cardiomyopathy (Danon's disease) in two siblings |
Abstract
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I. V. Leontyeva, D. A. Tsaregorodtsev |
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| Vol 60, No 2 (2015) |
Trends in the incidence of congenital malformations in the Russian Federation (according to the 2006—2012 Congenital Malformations Monitoring Base data) |
Abstract
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N. S. Demikova, A. S. Lapina, M. A. Podol'naya, B. A. Kobrinsky |
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| Vol 60, No 2 (2015) |
Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment |
Abstract
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E. A. Nikolaeva, M. I. Yablonskaya, M. N. Kharabadze, Yu. I. Davydova, O. N. Komarova, P. V. Novikov |
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| Vol 59, No 4 (2014) |
Very long-chain acyl-coenzyme A dehydrogenase deficiency |
Abstract
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A. V. Degtyareva, I. V. Nikitina, I. V. Orlovskaya, E. Yu. Zakharova, G. V. Baidakova, O. V. Ionov, D. Yu. Amirkhanova, A. V. Levadnaya |
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| Vol 59, No 4 (2014) |
Glycogen storage disease type II (Pompe disease) in children |
Abstract
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A. N. Semyachkina, V. S. Sukhorukov, T. M. Bukina, M. I. Yablonskaya, E. S. Merkuryeva, M. N. Kharabadze, E. A. Proskurina, E. Yu. Zakharova, A. V. Brydun, P. A. Shatalov, P. V. Novikov |
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| Vol 59, No 4 (2014) |
Wilson—Mikity syndrome is a rare chronic neonatal interstitial lung disease |
Abstract
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D. Yu. Ovsyannikov, M. V. Narogan, M. A. Belyashova, A. A. Krushelnitsky, L. D. Vorona |
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| Vol 59, No 1 (2014) |
Johanson—Blizzard syndrome |
Abstract
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L. S. Baleva, Yu. M. Kagan, L. I. Danilycheva, S. F. Bluth |
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| Vol 61, No 1 (2016) |
Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy |
Abstract
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E. V. Tozliyan, V. S. Sukhorukov, E. Yu. Zakharova, M. N. Kharabadze |
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