نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
background illicit opiate use has an increasing incidence and prevalence, which increases mortality and morbidity, marginalization, and criminal behaviors, and causes major adverse effects on society. objectives this study aimed to investigate and follow the outcome of patients who underwent ultrarapid opiate detoxification (urod) prospectively. patients and methods in this randomized clinical ...
Genetic disorders are not equally distributed over the geography of the Arab region. While a number of disorders have a wide geographical presence encompassing 10 or more Arab countries, almost half of these disorders occur in a single Arab country or population. Nearly, one-third of the genetic disorders in Arabs result from congenital malformations and chromosomal abnormalities, which are als...
Background: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life‐threatening conditions. Aim: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors assoc...
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. Genetic abnormalities, syndromes, metabolic disorders, teratogens, infections, prenatal, perinatal, and postnatal injuries can cause both congenital and postnatal microcephaly. Evalu...
The schistosomus reflexus (SR) etymologically refers to an abdominal and or thoracic cleft with eventration of viscera. This pathology is a rare lethal congenital syndrome in calves, lambs, goat kids. condition likely caused by various factors such as endocrine, metabolic, hereditary, teratogenic the first third gestation, leading disorders embryonic development. In this report, 3-year-old fema...
The visualization of Golgi glycosylation defects in patients' cells with Congenital Disorders of Glycosylation (CDG) is challenging and necessitates the use of cumbersome glycan analysis methods that are barely adapted to clinical research. We show here that metabolic labelling of patient cells with alkyne-tagged sialic-acid (SiaNAl) enables an easy and reliable readout assay for the detection ...
Photodermatoses represent a heterogeneous group of disorders characterized by the development pathological skin reaction to solar radiation. The or intensification inflammatory after exposure ultraviolet electromagnetic spectrum that is visible human eye distinctive feature all photosensitive photodermatoses. Although photodermatoses are less common in children than adults, they often associate...
In children, hepatobiliary diseases are rarely and mainly due to congenital defects during formation, development of the liver biliary tract or disorders metabolism. The infant have incomplete physiology perinatal until childhood period. process complete child's tract, there important changes affected by genetic environmental factors. Therefore, very vulnerable leading in children. Disorders fo...
background: increasing evidence suggests an association between elevated serum aminotransferase levels and metabolic disorders (metabolic syndrome, hyperlipemia and diabetes mellitus). however, the significance of relatively low levels of aminotransferases in relation to metabolic disorders has not been fully investigated in the general population. we investigated the association between seru...
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