Screening Mentally Retarded Children for Inborn Errors of Metabolism
نویسندگان
چکیده
منابع مشابه
Newborn Screening for Inborn Errors of Metabolism in Saskatchewan
In Saskatchewan all babies are screened for approximately 30 metabolic disorders. The newborn screen includes testing for several amino acid disorders, organic acid disorders, fatty acid disorders, endocrine disorders and a few other inherited metabolic conditions. Methods of detection include tandem mass spectrometry, immunoassays using fluorescent detection and spectrophotometric techniques. ...
متن کاملScreening for inborn errors of amino acid metabolism.
Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening. Because of recent developments and discoveries, more detailed de...
متن کاملSelective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
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...
متن کاملGarrod's Inborn Errors of Metabolism
Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...
متن کاملInborn errors of metabolism: iron.
The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...
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ژورنال
عنوان ژورنال: Journal of Nepal Health Research Council
سال: 2017
ISSN: 1999-6217,1727-5482
DOI: 10.3126/jnhrc.v15i1.18008