Developmental delay: when to suspect and how to investigate for an inborn error of metabolism
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چکیده
منابع مشابه
Developmental delay: when to suspect and how to investigate for an inborn error of metabolism.
The purpose of this review is to provide a practical guideline on the suspicion and investigation of inborn errors of metabolism (IEMs) as cause of developmental delay. Developmental delay is a common paediatric problem. Inborn errors of metabolism are a rare cause of developmental delay. However, it is important to detect IEMs for several reasons: accurate counselling may be given regarding re...
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Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...
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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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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2005
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.2005.072025