نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
objective deficient enzyme activity may cause congenital metabolic defects. these defectsare inherited in an autosomal recessive, autosomal dominant, and x-linkedpatterns. this study was aimed at investigating the occurrence of metabolicdiseases in qazvin province. materials & methods this cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. clinica...
purpose a metabolic abnormality such as obesity is a major obstacle in the maintenance of the human health system and causes various chronic diseases including type 2 diabetes, hypertension, cardiovascular diseases, as well as various cancers. this study was designed to summarize the recent scientific knowledge regarding the anti-obesity role of curcumin (diferuloylmethane), which is isolated f...
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
OBJECTIVE To assess the quality of data on births in the Natural Population Movement (NPM) and congenital metabolic disorders registers with regard to calculation of reproductive and perinatal health indicators. METHODS The following comparisons between registers were made: (1) the total number of births to mothers living in Catalonia and Valencia from 2005 to 2006, (2) the percentage of miss...
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve hypop...
Introduction Congenital metabolic disorders refer to inherited defects producing metabolic abnormalities in the human body. Disorders that disrupt the central nervous system (CNS) are of great importance. These disorders produce a paradoxical situation for neuroradiologists and imaging scientists investigating them. One would hypothesize that an error in metabolism would produce either an exces...
a four day old female infant was admitted because of poor feeding, vomiting and jaundice. laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, acth, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and hence ps...
abstract hypotonia is a serious neurologic problem in neonatal period. although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. the objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes methods this cross –sectional prospective study was carried out on the 3281 term infants ho...
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