نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
Hypothyroidism is the most common endocrine disorder in dogs. The present paper puts on record various ailments associated with primary hypothyroidism caused by thyroxine (T4) deficiency and peripheral disorders in euthyroid dogs, which mimic hypothyroidism. The study undertaken on 10,172 dogs presented at the clinics with skin and coat incongruity, revealed clinical manifestations suggestive o...
INTRODUCTION Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting with anaemia. The type of porphyria was found to be congeni...
Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
Congenital infection with cytomegalovirus (CMV) is the main cause of sensorineural hearing loss and psychomotor impairment which can develop at birth or later in infant's life. Because of a lack of nation-wide serological screening for pregnant women and accepted antiviral therapy during pregnancy in a high seroprevalence rate population of Poland, we introduced the regional screening programme...
چکیده ندارد.
Yunis Varon Syndrome was first discovered by Emilio and Humberto in the year 1980. It affects both genders equal number. Most of infants are with Cleidocranial dysplasia, ectodermal anomalities, distal aphalangia. By characteristic features which including deformity pelvis, dislocation hips , bone fracture, urinary tract abnormalities, central nervous system abnormalities this they have reporte...
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