Publications by authors named "Nouriya Al-Sannaa"

16Publications

Renal Involvement in Methylmalonic Aciduria.

Kidney Int Rep 2017 Sep 28;2(5):956-960. Epub 2017 Apr 28.

Metabolic Section, Department of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ekir.2017.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733828PMC
September 2017

The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.

J Community Genet 2018 Jan 15;9(1):65-70. Epub 2017 Sep 15.

Pediatrics Service Division, Johns Hopkins Aramco Healthcare, Saudi Aramco, Dhahran, 31311, Saudi Arabia.

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http://link.springer.com/10.1007/s12687-017-0329-1
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http://dx.doi.org/10.1007/s12687-017-0329-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752655PMC
January 2018

Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.

J Cutan Med Surg 2015 Nov-Dec;19(6):595-9. Epub 2015 May 29.

Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia.

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http://journals.sagepub.com/doi/ 10.1177/1203475415588659
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http://dx.doi.org/10.1177/1203475415588659DOI Listing
December 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

Mol Genet Genomic Med 2013 Jul 30;1(2):113-7. Epub 2013 May 30.

Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children Wilmington, Delaware, 19803.

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http://dx.doi.org/10.1002/mgg3.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865576PMC
July 2013

Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.

JIMD Rep 2012 6;3:91-5. Epub 2011 Sep 6.

Internal Medicine Services Division, Dhahran Health Center, Saudi Aramco, 10955, Dhahran, 31311, Saudi Arabia,

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http://dx.doi.org/10.1007/8904_2011_67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509864PMC
February 2013

Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.

Saudi Med J 2010 Aug;31(8):931-4

Dhahran Health Center, Pediatrics Services Division, Saudi Aramco, Dhahran, Kingdom of Saudi Arabia.

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August 2010