نتایج جستجو برای: inborn error of metabolism
تعداد نتایج: 21199544 فیلتر نتایج به سال:
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).
After completing this article, readers should be able to: 1. Recognize the signs and symptoms that are suggestive of an inborn error of metabolism. 2. Describe the characteristics of different classes of metabolic syndromes. 3. Formulate a logical diagnostic approach to determining which specific condition is present when an inborn error of metabolism is suspected. 4. Delineate the value and sc...
Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
Although essential fructosuria has been known for 70 years and has been recognized as an inborn error of metabolism for more than 20 years (Lasker, 1941), it is only recently that a second metabolic anomaly involving fructose has been described by Froesch, Prader, Labhart, Stuber and Wolf (1957). These authors recorded four affected (two children and two adults) and three probably affected memb...
Salt-induced Hypertension in Rats The history of NaCl-induced hypertension in rats is given iby Meneely and 'Dahl (1961). In our laboratory iwe now have two strains of white Sprague-Dawley rats, both with fairly predictable prognosis relative to the development of hypertension, (Dahl, Heine and Tassinari, 1962). They are called R (for Resistant) and S (for Sensitive), and if chronically fed the...
objective: although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.method: using panel neonatal screening for detection of metabolic diseases in 650 high risk iranian patie...
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