نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
the advancement in the healthcare systems, stringent interventions for infectious diseases and improved diet has significantly shifted the patterns of morbidities, and consequently hereditary and congenital anomalies (ca) and non-communicable diseases (ncds) have emerged as the most common causes of morbidity and mortality. in pakistan, there is no systematic health surveillance system to asses...
congenital myopathies are a clinically and genetically heterogeneous group of inherited muscle disorders characterized clinically by reduced fetal movements, hypotonia, weakness and developmental delay beginning at birth or in the first year of life. however, there can be a wide variation in clinical findings including mild and asymptomatic presentation to a severe form within each subtype with...
The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to recognition of newer diagnostic entities (several c...
arly intrauterine period during 3 8 weeks of gestation is the vital period of life for the normal development of organs and organ system or organogenesis. Congenital malformation or defects are structural, functional and metabolic disorders at birth and the exact cause of birth defects in 40-60% are unknown. However, factors like genetic, environmental, teratogenic and infectious agents play im...
Objective: to identify types of birth defects in HIV vertically exposed children and to determine the rate of congenital disorders counted in children born to HIV infected mothers. We analyzed the data recorded for HIV perinatally exposed children followed up in the National Institute for Infectious Diseases “Prof. Dr. Matei Balş”, Bucharest, the Pediatric Department from January 1 2006 to Dece...
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative componen...
BACKGROUND Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for many nonmalignant disorders, such as autoimmune disorders, inborn metabolic disorders, hemoglobinopathies, and immunodeficiency disorders. Autoimmune complications (AICs) after HSCT, such as autoimmune cytopenias, autoimmune hepatitis, primary biliary cirrhosis, and autoimmune cutaneous manifestati...
1 Reference Centre for Inherited Metabolic Disorders (MaMEA), Université Paris Descartes, Paris, France 2 INSERM U781, Université Paris Descartes, Paris, France 3 Paediatric Neurology, Armand Trousseau Hospital and UPMC Univ Paris 06, Paris, France 4 INSERM, U1016 and Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France 5 Paediatric Department, Antoine-Beclère Hospital, C...
OBJECTIVES This study examined for the first time to our knowledge the national data available from newborn screening programs in the United States and determined the salient characteristics of various screening tests for 3 hereditary metabolic disorders and 2 congenital endocrinopathies with emphasis on positive predictive values (PPVs) to delineate the magnitude of false-positive results. M...
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