[HTML][HTML] The prevalence of phenylketonuria in Arab countries, Turkey, and Iran: a systematic review
…, OB Da'ar, H Abdul Razzak, AN AlOdaib - BioMed research …, 2018 - hindawi.com
Background/Objectives. This paper seeks to identify the prevalence of Phenylketonuria (PKU)
in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive …
in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive …
[HTML][HTML] Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility
…, H Hara, R Maeba, T Okazaki, ANA Alodaib… - PLoS …, 2013 - journals.plos.org
Peroxisomes are subcellular organelles involved in lipid metabolic processes, including those
of very-long-chain fatty acids and branched-chain fatty acids, among others. Peroxisome …
of very-long-chain fatty acids and branched-chain fatty acids, among others. Peroxisome …
[HTML][HTML] Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
…, AI Al-Aqeel, AM Alhashem, A Alodaib… - Saudi Medical …, 2020 - ncbi.nlm.nih.gov
Objectives: To determine the incidence of newborn screening (NBS) disorders and to study
the key performance indicators of the program. Methods: This retrospective single-center …
the key performance indicators of the program. Methods: This retrospective single-center …
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of …
…, S AlHarthi, MS Aldosary, M Alsagob, A AlOdaib… - The Cerebellum, 2018 - Springer
The objective of this study was the identification of likely genes and mutations associated with
an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients …
an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients …
Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations
…, M Al Saleh, MA Riash, A Alodaib… - Blood coagulation & …, 2009 - journals.lww.com
Different types of mutations have been reported in patients with hemophilia A. Although
about half of all severe factor VIII deficiencies are caused by gene rearrangements (inversions) …
about half of all severe factor VIII deficiencies are caused by gene rearrangements (inversions) …
[HTML][HTML] Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature
…, H AlZaidan, MM AlRasheed, A AlOdaib… - Frontiers in …, 2023 - frontiersin.org
Background SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter,
which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and …
which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and …
[HTML][HTML] First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: Additional data to 15q13. 3 syndrome with a report of high …
…, M Nester, N Sakati, SM Wakil, A AlOdaib… - Molecular …, 2019 - Springer
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a
cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity …
cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity …
[HTML][HTML] Health Information Exchange in Relation to Long-Term Follow-Up Data System in Newborn Screening Program: General Overview and the Saudi Status
LY AlAhaidib, AN AlOdaib - Saudi Journal of Health Systems Research, 2022 - karger.com
Background: Newborn screening program (NBS) is a vital public health service aiming to
prevent morbidity, mortality, and disability through early detection and intervention. The service …
prevent morbidity, mortality, and disability through early detection and intervention. The service …
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia
…, E Wafa, AI Al-Aqeel, AM Alhashem, A Ali… - Saudi Medical …, 2020 - search.proquest.com
Objectives: To determine the incidence of newborn screening (NBS) disorders and to study
the key performance indicators of the program. Methods: This retrospective single-center …
the key performance indicators of the program. Methods: This retrospective single-center …
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility
…, H Hara, R Maeba, T Okazaki, ANA Alodaib… - 2013 - dr.ntu.edu.sg
Peroxisomes are subcellular organelles involved in lipid metabolic processes, including those
of very-long-chain fatty acids and branched-chain fatty acids, among others. Peroxisome …
of very-long-chain fatty acids and branched-chain fatty acids, among others. Peroxisome …