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Research ArticleCase Report
Open Access

The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening

Talal AlAnzi, Fahad J. Al Harbi, Joharah AlFaifii and Sarar Mohamed
Saudi Medical Journal February 2021, 42 (2) 219-222; DOI: https://doi.org/10.15537/smj.2021.2.25643
Talal AlAnzi
From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
MD
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  • For correspondence: [email protected]
Fahad J. Al Harbi
From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
PhD
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Joharah AlFaifii
From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
MSc
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Sarar Mohamed
From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
FRCPCH, MD
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Article Information

vol. 42 no. 2 219-222
DOI 
https://doi.org/10.15537/smj.2021.2.25643
PubMed 
33563743

Published By 
Saudi Medical Journal
Online ISSN 
1658-3175
History 
  • Received November 17, 2020
  • Accepted December 10, 2020
  • Published online February 9, 2021.

Copyright & Usage 
Copyright: © Saudi Medical Journal This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial License (CC BY-NC), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Information

  1. Talal AlAnzi, MD⇑,
  2. Fahad J. Al Harbi, PhD,
  3. Joharah AlFaifii, MSc and
  4. Sarar Mohamed, FRCPCH, MD
  1. From the Department of Pediatrics (AlAnzi, Mohamed); from the Department of Biochemical laboratory (Al Harbi, AlFaifi), Prince Sultan Military Medical City; from the Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University; and from the Department of Pediatrics (Mohamed), College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
  1. Address correspondence and reprint request to: Dr. Talal AlAnzi, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail: talanzi{at}psmmc.med.sa ORCID ID: http://orcid.org/0000-0003-315-6759
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Cited By...

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This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience
    Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed
    JIMD Reports 2025 66 1
  • Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study
    Abubakr Salem Alzwaihri, Eid Ayed Almasoudi, Manal Taha Hadrawi, Enam Y. Danish, Faisal Fahad Alasmari, Hassan Arafah Ahmed
    Annals of Medicine & Surgery 2025 87 5
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The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening
Talal AlAnzi, Fahad J. Al Harbi, Joharah AlFaifii, Sarar Mohamed
Saudi Medical Journal Feb 2021, 42 (2) 219-222; DOI: 10.15537/smj.2021.2.25643

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The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening
Talal AlAnzi, Fahad J. Al Harbi, Joharah AlFaifii, Sarar Mohamed
Saudi Medical Journal Feb 2021, 42 (2) 219-222; DOI: 10.15537/smj.2021.2.25643
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Keywords

  • CBS gene
  • homocystinuria
  • newborn
  • screening

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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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