P360 The study of hemostasis system and polymorphism in the genes of coagulation in patients with mucopolysaccharidosis type ii

Autor: ND, Vashakmadze, OB, Gordeeva, VV, Botvinyeva, LS, Namazova-Baranova, AK, Gevorkyan, LM, Kuzenkova, TV, Podkletnova, KV, Savostyanov, AA, Pushkov

Publikováno v: Archives of Disease in Childhood; 2017, Vol. 102 Issue: Supplement 2 pA172-A172, 1p

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Autor: Voskoboeva EY; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Bookina TM; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Semyachkina AN; Research and Clinical Institute of Pediatrics named after Yuri Veltischev, Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow, Russia., Mikhaylova SV; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.; Detached Structural Unit Russian Children's Clinical Hospital, Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation Research, Moscow, Russia., Vashakmadze ND; Pediatrics Department, Central Clinical Hospital of the Russian Academy of Sciences, Pirogov Russian National Research Medical University, Moscow, Russia., Baydakova GV; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Zakharova EY; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia., Kutsev SI; Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.

Publikováno v: Frontiers in molecular biosciences [Front Mol Biosci] 2022 Jan 24; Vol. 8, pp. 783644. Date of Electronic Publication: 2022 Jan 24 (Print Publication: 2021).

Transition of patients with mucopolysaccharidosis from paediatric to adult care.

Autor: Lampe C; HELIOS Dr. Horst Schmidt Kliniken, Wiesbaden, Germany., McNelly B; Salford Royal NHS Foundation Trust, Salford, United Kingdom., Gevorkian AK; Research Center for Children's Health, Moscow, Russia., Hendriksz CJ; University of Pretoria, Pretoria, South Africa., Lobzhanidze TV; Research Center for Children's Health, Moscow, Russia., Pérez-López J; Vall d'Hebron University Hospital, Barcelona, Spain., Stepien KM; Salford Royal NHS Foundation Trust, Salford, United Kingdom., Vashakmadze ND; Research Center for Children's Health, Moscow, Russia., Del Toro M; Vall d'Hebron University Hospital, Barcelona, Spain.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Oct 21; Vol. 21, pp. 100508. Date of Electronic Publication: 2019 Oct 21 (Print Publication: 2019).

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Autor: Chistiakov DA; Department of Medical Nanobiotechnology, Pirogov Russian State Medical University, 117997 Moscow, Russia; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia. Electronic address: dimitry.chistiakov@gmail.com., Savost'anov KV; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Kuzenkova LM; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Gevorkyan AK; Institute of Preventive Pediatrics and Rehabilitation, Research Center for Children's Health, 119991 Moscow, Russia., Pushkov AA; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Nikitin AG; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Pakhomov AV; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Vashakmadze ND; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Zhurkova NV; Department of Molecular Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Podkletnova TV; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Mayansky NA; Department of Experimental Immunology and Virology, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, 119991 Moscow, Russia., Namazova-Baranova LS; Institute of Preventive Pediatrics and Rehabilitation, Research Center for Children's Health, 119991 Moscow, Russia., Baranov AA; Research Center for Children's Health, 119991 Moscow, Russia.

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2014 Sep 25; Vol. 436, pp. 112-20. Date of Electronic Publication: 2014 May 26.