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171801

Newborn Screening for Certain Treatable Inborn Errors of Metabolism in Alexandria

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Last updated: 22 Jan 2023

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Abstract

As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than the just testing, but also involves follow up, diagnosis, treatment, and evaluation. Newborn screening is aimed at early detection and intervention of treatable inborn errors of metabolism and also at establishing the incidence of these disorders. Specimens of dried blood spots were collected from infants born in Alexandria, attending 13 Health Offices in different Districts of Alexandria for BCG vaccination, and the tests were done in the Human Genetics Department, Medical Research Institute, Alexandria University. The total number screened was 3000 infants, of them; one [0.033%] infant had hyperphenylalaninemia, one [0.033%] infant had classic galactosemia and 11 [0.37%] infants had high level of thyroid stimulating hormone [TSH], on confirmatory test, 9 of them were found to be euthyroid.

DOI

10.21608/jhiph.2005.171801

Keywords

Newborn Screening, Inborn Errors, metabolism, alexandria

Authors

First Name

Ebtesam

Last Name

Abdallah

MiddleName

M.

Affiliation

Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt

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City

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Orcid

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First Name

Suzan

Last Name

Ismail

MiddleName

R.

Affiliation

Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Nawal

Last Name

El-Sayed

MiddleName

A.

Affiliation

Department of Nutrition, High Institute of Public Health, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Mervat

Last Name

Hashish

MiddleName

M.

Affiliation

Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Amina

Last Name

El-Gezeery

MiddleName

-

Affiliation

Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt

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City

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Orcid

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Volume

35

Article Issue

3

Related Issue

24096

Issue Date

2005-07-01

Receive Date

2021-05-24

Publish Date

2005-07-01

Page Start

537

Page End

546

Print ISSN

2357-0601

Online ISSN

2357-061X

Link

https://jhiphalexu.journals.ekb.eg/article_171801.html

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https://jhiphalexu.journals.ekb.eg/service?article_code=171801

Order

4

Type

Original Article

Type Code

511

Publication Type

Journal

Publication Title

Journal of High Institute of Public Health

Publication Link

https://jhiphalexu.journals.ekb.eg/

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Article

Created At

22 Jan 2023