Publications by authors named "Aida I Al Aqeel"

15Publications

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Saudi Med J 2020 Jul;41(7):703-708

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

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http://dx.doi.org/10.15537/smj.2020.7.25147DOI Listing
July 2020

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.

Saudi Med J 2020 Feb;41(2):199-202

Department of Pediatrics, Medical Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

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http://dx.doi.org/10.15537/smj.2020.2.24885DOI Listing
February 2020

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.

Saudi Med J 2020 Jan;41(1):98-101

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

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http://dx.doi.org/10.15537/smj.2020.1.24760DOI Listing
January 2020

Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?

Authors:
Aida I Al Aqeel

J Paediatr Child Health 2017 12;53(12):1242

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/jpc.13747DOI Listing
December 2017

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.

Gene 2013 Jan 9;513(2):297-300. Epub 2012 Oct 9.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2012.09.097DOI Listing
January 2013

Human cloning, stem cell research. An Islamic perspective.

Authors:
Aida I Al-Aqeel

Saudi Med J 2009 Dec;30(12):1507-14

Department of Pediatrics, Riyadh Military Hospital, and Stem Cell Therapy Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

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December 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Preimplantation genetic diagnosis of Morquio disease.

Prenat Diagn 2008 Oct;28(10):900-3

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/pd.2081DOI Listing
October 2008

Islamic ethical framework for research into and prevention of genetic diseases.

Authors:
Aida I Al Aqeel

Nat Genet 2007 Nov 22;39(11):1293-8. Epub 2007 Oct 22.

Department of Pediatrics, Riyadh Military Hospital and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://www.nature.com/doifinder/10.1038/ng.2007.14
Publisher Site
http://dx.doi.org/10.1038/ng.2007.14DOI Listing
November 2007

Ethical guidelines in genetics and genomics. An Islamic perspective.

Authors:
Aida I Al-Aqeel

Saudi Med J 2005 Dec;26(12):1862-70

Department of Pediatrics, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia.

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December 2005

Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.

Authors:
Aida I Al-Aqeel

Saudi Med J 2005 Jan;26(1):24-30

Inborn Errors of Metabolism, Endocrinology and Genetics, Department of Pediatrics, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia.

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January 2005