Search Results - "Alsafi, Rasha"

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants by Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind

“…Abstract Background Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic…”
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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience by Alsharhan, Hind, Ahmed, Amir A., Ali, Naser M., Alahmad, Ahmad, Albash, Buthaina, Elshafie, Reem M., Alkanderi, Sumaya, Elkazzaz, Usama M., Cyril, Parakkal Xavier, Abdelrahman, Rehab M., Elmonairy, Alaa A., Ibrahim, Samia M., Elfeky, Yasser M. E., Sadik, Doaa I., Al-Enezi, Sara D., Salloum, Ayman M., Girish, Yadav, Al-Ali, Mohammad, Ramadan, Dina G., Alsafi, Rasha, Al-Rushood, May, Bastaki, Laila

“…Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include…”
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Understanding the prevalence and variants of mucopolysaccharidoses in Kuwait by Alsharhan, Hind, Alawadi, Aminah, Makhseed, Nawal, Ramadan, Dina, Shahhat, Madonna, Elshawaf, Rania, Alsafi, Rasha, Albash, Buthaina

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Case Report: A Rare Association Between Brown-Vialetto-Van Laere Syndrome type 2 (BVVLS2) and Cyclic Vomiting Syndrome (CVS) in a Pediatric Patient by Alfattal, Rita, Algaith, Adeeb, Sadeq, Hussain, Alsafi, Rasha, Buhamra, Eman

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LYRM7‐associated mitochondrial complex III deficiency with non‐cavitating leukoencephalopathy and stroke‐like episodes by Alfattal, Rita, Alfarhan, Maryam, Algaith, Adeeb M., Albash, Buthaina, Elshafie, Reem M., Alshammari, Asma, Alahmad, Ahmad, Dashti, Fatima, Alsafi, Rasha, Alsharhan, Hind

“…Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings…”
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LYRM7 ‐associated mitochondrial complex III deficiency with n on‐cavitating leukoencephalopathy and s troke‐like episodes by Alfattal, Rita, Alfarhan, Maryam, Algaith, Adeeb M., Albash, Buthaina, Elshafie, Reem M., Alshammari, Asma, Alahmad, Ahmad, Dashti, Fatima, Alsafi, Rasha, Alsharhan, Hind

“…Abstract Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological…”
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eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait by Alabdulrazzaq, Fatima, AlSharhan, Hind, Ahmed, Amir, Marafie, Makia, Sulaiman, Ibrahim, Alshafie, Reem, AlAhmad, Ahmad, AlBash, Buthaina, Ali, Naser, Cyril, Parakkal, Alkazzaz, Usama, Ibrahim, Samia, Elfeky, Yasser, Salloum, Ayman, Alshammari, Asma, Abdelrahman, Rehab, Alsafi, Rasha, Ramadan, Dina, Al-Rushood, May, Bastaki, Laila

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Evaluation of N-Terminal pro B-Type Natriuretic Peptide (NT-proBNP) Levels with Co‑morbidity Factors as a Threshold Concept of Heart Dysfunction Progress by Rana Majeed Hameed, Rasha Alsafi, Haider H Sallum, Mohammed F Alqanbar

“…ABSTRACT Introduction: Ischemic Heart Diseases (IHD) is one of the most common causes of death worldwide. Myocardial impairment is an imbalance between…”
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Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder by Alzayed, Nada T, Alzuabi, Abdullah H, Alqusaimi, Reem A, El-Anany, Ehab A, Alholle, Abdullah, Aboelanine, Ashraf H, Omar, Sherief, Alsafi, Rasha, Elmonairy, Alaa A, Alali, Fatemah J, Alahmad, Ahmad, Alsharhan, Hind, Albash, Buthaina, Marafi, Dana

“…The endoplasmic reticulum (ER) membrane protein complex is a conserved multisubunit transmembrane complex that enables energy-independent insertion of newly…”
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Premalignant changes associated chronic gastritis in Karbala Province: multi institutional study by AlSafi, Rasha Abd Alraouf Neama, Alqanbar, Mohammed F., Al-Sabbagh, Wafaa Redha Mohammed

“…Objectives: The aim of this study was to investigate the prevalence of gastric premalignant changes as gastric atrophy, intestinal metaplasia and dysplastic…”
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Are Histopathological Changes of H. pylori Infection in Young Dyspeptic Patients Necessitate Endoscopy? by Al-Sabbagh, Wafa'a Redha Mohammed, Yahya, Alaa Qasim, Alsafi, Rasha Abdelraouf

“…is an important gastrointestinal infective bacteria with many serious complications including gastric erosions and ulceration, duodenal ulcer, gastric…”
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LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes by Alfattal, Rita, Alfarhan, Maryam, Algaith, Adeeb M, Albash, Buthaina, Elshafie, Reem M, Alshammari, Asma, Alahmad, Ahmad, Dashti, Fatima, Alsafi, Rasha, Alsharhan, Hind

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