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Detection of inborn errors of metabolism among pediatric patients admitted to pediatric ICU

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

Selim, Layla A. , Qaddah, Ahmad O. , Hasan, Fayza A.

Authors

El-Qadhi, Nivin Khayri Muhammad

Accessioned

2017-07-12 06:42:13

Available

2017-07-12 06:42:13

type

M.Sc. Thesis

Abstract

IEM comprise a large class of genetic disorders, which are not rare. In our study, 50 patients aged 1month to 15 years, Mean 20.7months, Standard Deviation ±27.909, selected from ICU at Cairo University Children Hospital, were subjected to clinical & neurological examination, basic metabolic investigations & expanded metabolic screening using Tandem Mass Spectrometry (TMS). 3/50 (6%) proved to suffer from metabolic disorders. We have to maintain a high level of suspicion for diagnosis of IEM & we recommend screening of ICU patients, especially Neonatal ICU for IEM by TMS, as this will allow early therapeutic intervention.

Issued

1 Jan 2008

DOI

http://dx.doi.org/10.21473/iknito-space/37657

Details

Type

Thesis

Created At

31 Jan 2023