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Wyświetlanie 1-8 z 8
Tytuł:
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.
Autorzy:
Magner M; Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic. .
Almássy Z; Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary.
Gucev Z; University Children's Hospital, Skopje, North Macedonia.
Kieć-Wilk B; Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland.
Plaiasu V; Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania.
Tylki-Szymańska A; Department of Pediatric Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Zafeiriou D; First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece.
Zaganas I; Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece.
Lampe C; Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Giessen, Germany.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 10; Vol. 17 (1), pp. 190. Date of Electronic Publication: 2022 May 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidoses*/drug therapy
Mucopolysaccharidosis IV*/drug therapy
Amino Acid Metabolism, Inborn Errors ; Consensus ; Enzyme Replacement Therapy ; Humans ; Isovaleryl-CoA Dehydrogenase/deficiency
SCR Disease Name:
Acidemia, isovaleric
Czasopismo naukowe
Tytuł:
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Autorzy:
Tylki-Szymańska A; Department of Pediatric Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Almássy Z; Department of Toxicology and Metabolic Diseases, Heim Pal Children's Hospital Budapest, Budapest, Hungary.
Christophidou-Anastasiadou V; Archbishop Makarios III Hospital, Nicosia, Cyprus.
Avdjieva-Tzavella D; Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria.
Barisic I; Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
Cerkauskiene R; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; University Children's Hospital, Belgrade, Serbia.
Djiordjevic M; Mother and Child Health Care Institute of Serbia, Medical University of Belgrade, Belgrade, Serbia.
Gucev Z; University Children's Hospital, Skopje, North Macedonia.
Hlavata A; National Institute of Children's Diseases, Department of Paediatrics, Medical Faculty Comenius University, Centre for Inherited Metabolic Disorders, Bratislava, Slovakia.
Kieć-Wilk B; Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland.
Magner M; Department of Paediatrics, University Thomayer Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.; Department of Pediatrics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.
Pecin I; University Hospital Centre Zagreb, Department of Internal Medicine, Division of Metabolic Diseases, Zagreb School of Medicine, Zagreb, Croatia.
Plaiasu V; Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania.
Samardzic M; Institute for Sick Children, Department of Pediatric Endocrinology and Metabolism, Medical School, University of Montenegro, Podgorica, Montenegro.
Zafeiriou D; First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece.
Zaganas I; Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece.
Lampe C; Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Standort Giessen, Feulgenstr. 12, 35389, Giessen, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 24; Vol. 17 (1), pp. 136. Date of Electronic Publication: 2022 Mar 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucopolysaccharidoses*/drug therapy
Mucopolysaccharidoses*/therapy
Mucopolysaccharidosis II*/drug therapy
Mucopolysaccharidosis IV*/drug therapy
Adult ; Enzyme Replacement Therapy/methods ; Humans ; Quality of Life
Czasopismo naukowe
Tytuł:
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.
Autorzy:
Tobór-Świętek E; Department of Metabolic Diseases, Jagiellonian University Medical College, 31-008 Cracow, Poland.; Department of Metabolic Diseases, University Hospital, Jakubowskiego 2 Street, 30-688 Cracow, Poland.
Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211 Warsaw, Poland.
Bik-Multanowski M; Department of Medical Genetics, Medical College, Jagiellonian University, Wielicka 265 Street, 30-633 Cracow, Poland.
Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Unii Lubelskiej 1 Street, 71-242 Szczecin, Poland.
Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, Institute 'Children's Memorial Health Institute', al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Kałużny Ł; Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27/33 Street, 60-572 Poznan, Poland.
Wierzba J; Department of Paediatrics, Hematology and Oncology Medical University of Gdansk, Debniki 7, 80-752 Gdansk, Poland.
Pac M; Department of Immunology, Institute 'Children's Memorial Health Institute', al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Jahnz-Różyk K; Department of Internal Diseases, Pneumology, Allergology and Clinical Immunology, Military Medical Institute, Szaserów 128 Street, 04-141 Warsaw, Poland.
Więsik-Szewczyk E; Department of Internal Diseases, Pneumology, Allergology and Clinical Immunology, Military Medical Institute, Szaserów 128 Street, 04-141 Warsaw, Poland.
Kieć-Wilk B; Unit of Rare Metabolic Diseases, Department of Metabolic Diseases Jagiellonian University, Medical College, University Hospital, Jakubowskiego 2 Street, 30-688 Cracow, Poland.
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Źródło:
Journal of clinical medicine [J Clin Med] 2021 Oct 22; Vol. 10 (21). Date of Electronic Publication: 2021 Oct 22.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Predictors of the maximal oxygen consumption in adult patients with type 1 diabetes treated with personal insulin pumps.
Autorzy:
Matejko B; Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.; University Hospital, Krakow, Poland.
Tota Ł; Department of Physiology and Biochemistry, Faculty of Physical Education and Sport, University of Physical Education in Krakow, Krakow, Poland.
Mrozińska S; University Hospital, Krakow, Poland.
Morawska M; Department of Sports Medicine and Human Nutrition, Faculty of Physical Education and Sport, University of Physical Education in Krakow, Krakow, Poland.
Pałka T; Department of Physiology and Biochemistry, Faculty of Physical Education and Sport, University of Physical Education in Krakow, Krakow, Poland.
Kieć-Wilk B; Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.; University Hospital, Krakow, Poland.
Klupa T; Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.; University Hospital, Krakow, Poland.
Malecki MT; Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland.; University Hospital, Krakow, Poland.
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Źródło:
Journal of diabetes investigation [J Diabetes Investig] 2021 Aug; Vol. 12 (8), pp. 1377-1385. Date of Electronic Publication: 2021 Feb 03.
Typ publikacji:
Journal Article
MeSH Terms:
Anaerobic Threshold*
Insulin Infusion Systems*
Diabetes Mellitus, Type 1/*drug therapy
Diabetes Mellitus, Type 1/*metabolism
Adiposity ; Adult ; Blood Glucose/analysis ; Blood Glucose Self-Monitoring ; Cohort Studies ; Diabetes Mellitus, Type 1/psychology ; Female ; Glycated Hemoglobin/analysis ; Humans ; Insulin/administration & dosage ; Insulin/analogs & derivatives ; Insulin/therapeutic use ; Lactic Acid/blood ; Male ; Meals ; Physical Fitness ; Predictive Value of Tests ; Running ; Sex Characteristics ; Stress, Psychological/psychology ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Tytuł:
MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy.
Autorzy:
Pawliński Ł; Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Krakow, 30-688 Kraków, Poland.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), 31-501 Kraków, Poland.
Polus A; Department of Clinical Biochemistry, Jagiellonian University Medical College, 30-688 Kraków, Poland.
Tobór E; Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Krakow, 30-688 Kraków, Poland.
Sordyl M; Department of Clinical Biochemistry, Jagiellonian University Medical College, 30-688 Kraków, Poland.
Kopka M; Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Krakow, 30-688 Kraków, Poland.
Solnica B; Department of Clinical Biochemistry, Jagiellonian University Medical College, 30-688 Kraków, Poland.
Kieć-Wilk B; Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Krakow, 30-688 Kraków, Poland.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), 31-501 Kraków, Poland.; Department of Metabolic Diseases and Diabetology, Jagiellonian University Medical College, 30-688 Kraków, Poland.
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Źródło:
Life (Basel, Switzerland) [Life (Basel)] 2020 Dec 22; Vol. 11 (1). Date of Electronic Publication: 2020 Dec 22.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.
Autorzy:
Żuber Z; Department of Pediatrics, St. Louis Regional Children's Hospital, Cracow, Poland.
Jurecka A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Genetics, University of Gdańsk, Gdańsk, Poland.
Różdżyńska-Świątkowska A; Anthropology Laboratory, The Children's Memorial Health Institute, Warsaw, Poland.
Migas-Majoch A; Department of Pediatrics, St. Louis Regional Children's Hospital, Cracow, Poland.
Lembas A; Department of Radiology, The Children's Memorial Health Institute, Warsaw, Poland.
Kieć-Wilk B; Department of Metabolic Diseases, Medical College Jagiellonian University, Krakow, Poland.
Tylki-Szymańska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
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Źródło:
PloS one [PLoS One] 2015 Apr 29; Vol. 10 (4), pp. e0123792. Date of Electronic Publication: 2015 Apr 29 (Print Publication: 2015).
Typ publikacji:
Journal Article
MeSH Terms:
Hip Joint/*diagnostic imaging
Mucopolysaccharidosis I/*diagnostic imaging
Mucopolysaccharidosis II/*diagnostic imaging
Adolescent ; Adult ; Child ; Cross-Sectional Studies ; Female ; Femur Neck/diagnostic imaging ; Hip Joint/pathology ; Humans ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/pathology ; Mucopolysaccharidosis II/diagnosis ; Mucopolysaccharidosis II/pathology ; Severity of Illness Index ; Ultrasonography
Czasopismo naukowe
Tytuł:
[DNA methylation in obesity].
Autorzy:
Pokrywka M; Ośrodek Badań Genetycznych i Nutrigenomiki, Małopolskie Centrum Biotechnologii, Uniwersytet Jagielloński.
Kieć-Wilk B; Katedra i Klinika Chorób Metabolicznych Collegium Medicum Uniwersytetu Jagiellońskiego.
Polus A; Katedra Biochemii Klinicznej Collegium Medicum Uniwersytetu Jagiellońskiego.
Wybrańska I; Ośrodek Badań Genetycznych i Nutrigenomiki, Małopolskie Centrum Biotechnologii, Uniwersytet Jagielloński; Katedra Biochemii Klinicznej Collegium Medicum Uniwersytetu Jagiellońskiego.
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Transliterated Title:
Metylacja DNA a otyłość prosta.
Źródło:
Postepy higieny i medycyny doswiadczalnej (Online) [Postepy Hig Med Dosw (Online)] 2014 Nov 27; Vol. 68, pp. 1383-91. Date of Electronic Publication: 2014 Nov 27.
Typ publikacji:
Journal Article; Review
MeSH Terms:
DNA Methylation/*genetics
Epigenesis, Genetic/*physiology
Obesity/*genetics
Humans ; Risk Factors
Czasopismo naukowe
    Wyświetlanie 1-8 z 8

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