A5008608237- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Histiocytic Disorders and Treatments
- Skin and Cellular Biology Research
- Congenital Diaphragmatic Hernia Studies
- Intestinal Malrotation and Obstruction Disorders
- Congenital Anomalies and Fetal Surgery
- Carbohydrate Chemistry and Synthesis
- Hispanic-African Historical Relations
- Studies on Chitinases and Chitosanases
- Autoimmune Bullous Skin Diseases
- Urological Disorders and Treatments
- Inflammatory Bowel Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Intestinal and Peritoneal Adhesions
- Glycogen Storage Diseases and Myoclonus
Scientific Center of Children's Health
2019-2023
Ministry of Health of the Russian Federation
2019-2023
Abstract Background There is a vast number of screening studies described in the literature from beginning twenty-first century to present day. Many these are related estimation Fabry disease (FD) morbidity among patients high-risk groups, including adult with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These show diverse detection frequencies (0–12%) depending on methodology. Our study only example large-scale selective FD based implementation next-generation...
Fabry disease (FD) is a rare hereditary multisystem caused by variants of the
Crohn's disease (CD) is a chronic, immune-mediated inflammatory bowel characterized by transmural damage of various parts the gastrointestinal tract. The aim study to present our experience in pre-surgical diagnosis, selection surgical tactics and volume intervention different variants tract lesions activity.
 We undertook cross-sectional, retrospective-prospective 64 children who underwent surgery due complicated CD. analyzed CD activity via PCDAI, medications used,...
<h3>Background and aims</h3> Prevalence of bladder exstrophy (BE) is 1 per 30–50 thousand newborns it observed in boys 2–6 times more often than girls. This pathology demands reconstructive surgery at early age. We are presenting the unique clinical case girl with Apert syndrome (its prevalence 100–160 newborns) confirmed molecular genetic testing. Research focused on identification appropriate surgical intervention taking into account anomaly form anatomic features child general medical...