scholarly journals The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia

2021 ◽  
Vol 29 ◽  
pp. 100817
Author(s):  
Anar Alfarsi ◽  
Majid Alfadhel ◽  
Seham Alameer ◽  
Amal Alhashem ◽  
Brahim Tabarki ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Dehydrogenase Deficiency ◽  
Dihydrolipoamide Dehydrogenase ◽  
Phenotypic Spectrum

Patterns of Sickle Cell, Thalassaemia and Glucose-6-Phosphate Dehydrogenase Deficiency Genes in North-Western Saudi Arabia

1991 ◽  
Vol 41 (1) ◽  
pp. 26-34 ◽  
Author(s):  
M.A.F. El-Hazmi ◽  
F.A. Jabbar ◽  
Faleh Z. Al-Faleh ◽  
A.R. Al-Swailem ◽  
A.S. Warsy
Keyword(s):  
Saudi Arabia ◽  
Sickle Cell ◽  
Dehydrogenase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
North Western

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

Mitochondrion ◽  
2014 ◽  
Vol 18 ◽  
pp. 49-57 ◽  
Author(s):  
Rosalba Carrozzo ◽  
Alessandra Torraco ◽  
Giuseppe Fiermonte ◽  
Diego Martinelli ◽  
Michela Di Nottia ◽  
...  
Keyword(s):  
Mitochondrial Myopathy ◽  
Dehydrogenase Deficiency ◽  
Vitamin B2 ◽  
Dihydrolipoamide Dehydrogenase

Glucose-6-Phosphate Dehydrogenase Deficiency in Newborn Infants of Eastern Saudi Arabia

1988 ◽  
Vol 8 (5) ◽  
pp. 356-358 ◽  
Author(s):  
Wijesundara A.E.P. Ranasinghe ◽  
Engracia C. Sitchon ◽  
Abdul S. Malik
Keyword(s):  
Saudi Arabia ◽  
Dehydrogenase Deficiency ◽  
Newborn Infants ◽  
Glucose 6 Phosphate Dehydrogenase

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

2006 ◽  
Vol 140A (14) ◽  
pp. 1542-1552 ◽  
Author(s):  
Jessie M. Cameron ◽  
Valeriy Levandovskiy ◽  
Neviana MacKay ◽  
Julian Raiman ◽  
Deborah L. Renaud ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Dihydrolipoamide Dehydrogenase ◽  
Novel Mutations ◽  
Complex Activity

scholarly journals Epidemiology of hereditary anemias in Saudi Arabia

2021 ◽  
Author(s):  
Shada Murshed Alharbi ◽  
Jawad Hussain Alshaiti ◽  
Jamila Mofareh Ghazwani ◽  
Afia Mofareh Ghazwani ◽  
Nawaf Mohammed Abushelwah ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Dehydrogenase Deficiency ◽  
Epidemiological Studies ◽  
Cell Disease ◽  
The Past ◽  
Prevalence Trends ◽  
High Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

The prevalence rates of hereditary anemias in Saudi Arabia are remarkably high when compared to other countries. For instance, estimates show that the prevalence of thalassemia constitutes one of the highest rates globally. Furthermore, it has been demonstrated that epidemiology significantly differs between the different regions across the Kingdom. Therefore, many epidemiological investigations were conducted. In this context, it has been demonstrated that the prevalence of thalassemia ranges from 0.4% to 5.9% in the Northern and Eastern regions, respectively. In the present literature review, we have discussed the different findings of epidemiological studies that studied the epidemiology of hereditary anemias in Saudi Arabia. We mainly discussed the epidemiology of glucose-6-phosphate dehydrogenase deficiency (G6PD), sickle cell disease, and thalassemia. Recent evidence indicates that the trends of β-thalassemia are significantly decreasing over the past years. On the other hand, it has been demonstrated that the prevalence trends of sickle cell disease is constant over the past years. G6PD is also highly prevalent in Saudi Arabia. However, recent evidence is lacking in the literature and needs to be updated by future investigations. Consanguineous marriage has been reported to be an important risk factor for the high prevalence of β-thalassemia and sickle cell disease across the Kingdom.

scholarly journals Clinical Presentations and Phenotypic Spectrum of Multiple Sclerosis at a University Hospital in Saudi Arabia

2018 ◽  
Vol 14 (3) ◽  
pp. 359
Author(s):  
Saima Nazish ◽  
Rizwana Shahid ◽  
Azra Zafar ◽  
Foziah Alshamrani ◽  
Abdullah Al Sulaiman ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Saudi Arabia ◽  
University Hospital ◽  
Phenotypic Spectrum ◽  
Clinical Presentations

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) (Favism) in Dammam, Eastern Province of Saudi Arabia

2018 ◽  
Vol 70 (5) ◽  
pp. 713-717
Author(s):  
Meshael Kareem O. Almutairi ◽  
Amnah Abdulrahman H. Alsayyid ◽  
Nagah Mohamed Abo El-Fetoh
Keyword(s):  
Saudi Arabia ◽  
Dehydrogenase Deficiency ◽  
Eastern Province ◽  
Glucose 6 Phosphate Dehydrogenase
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