Search Results - "Alsharhan, Hind"

Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males by Alsharhan, Hind, Alharbi, Hana, Priestley, Jessica, Ganetzky, Rebecca, He, Miao

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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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Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening by Alsharhan, Hind, Haider, Mohammad Z, Qadoura, Bann, Ayed, Mariam, Dhaunsi, Gursev S, Alkandari, Hessa

“…Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent -L-iduronidase (IDUA) enzyme…”
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Association of interleukin-4, interleukin-13 gene polymorphisms, HLA-DQ and DR genotypes with genetic susceptibility of type-1 Diabetes Mellitus in Kuwaiti children by Haider, Mohammad Z, Al Rushood, Maysoun, Alsharhan, Hind, Rasoul, Majedah A, Al-Mahdi, Maria, Al-Kandari, Hessa

“…Type-1 diabetes mellitus (T1DM) is a complex multifactorial disease with an autoimmune etiology and is thought to result from an interaction between genetic…”
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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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COXPD9 in an individual from Puerto Rico and literature review by Alsharhan, Hind, Muraresku, Colleen, Ganetzky, Rebecca D.

“…Defects of mitoribosome assembly with destabilization of mitochondrial ribosomal proteins and subsequent aberrant mitochondrial translation machinery are one…”
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eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype by Almoosawy, Noor, AlBalool, Haya, Fathy, Hanan, Ayed, Mariam, Zakaria, Waleed, Albaghli, Fawaz, AlSharhan, Hind

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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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Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG by Daniel, Earnest J. P., Edmondson, Andrew C., Argon, Yair, Alsharhan, Hind, Lam, Christina, Freeze, Hudson H., He, Miao

“…ALG3‐CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent…”
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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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Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype by Almoosawy, Noor, Albaghli, Fawaz, Al-Balool, Haya H, Fathi, Hanan, Zakaria, Waleed A, Ayed, Mariam, Alsharhan, Hind

“…Interstitial deletions in the long arm of chromosome 3, although relatively rare, have previously been reported to be associated with several congenital…”
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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder by Almannai, Mohammed, Marafi, Dana, Zaki, Maha S., Maroofian, Reza, Efthymiou, Stephanie, Saadi, Nebal Waill, Filimban, Bilal, Dafsari, Hormos Salimi, Rahman, Fatima, Maqbool, Shazia, Faqeih, Eissa, Al Mutairi, Fuad, Alsharhan, Hind, Abdelaty, Omar, Bin‐Hasan, Saadoun, Duan, Ruizhi, Noureldeen, Mahmoud M., Alqattan, Alaa, Houlden, Henry, Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.

“…PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a…”
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ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes by Alsharhan, Hind, He, Miao, Edmondson, Andrew C., Daniel, Earnest J. P., Chen, Jie, Donald, Tyhiesia, Bakhtiari, Somayeh, Amor, David J., Jones, Elizabeth A., Vassallo, Grace, Vincent, Marie, Cogné, Benjamin, Deb, Wallid, Werners, Arend H., Jin, Sheng C., Bilguvar, Kaya, Christodoulou, John, Webster, Richard I., Yearwood, Katherine R., Ng, Bobby G., Freeze, Hudson H., Kruer, Michael C., Li, Dong, Raymond, Kimiyo M., Bhoj, Elizabeth J., Sobering, Andrew K.

“…Pathogenic variants in ALG13 (ALG13 UDP‐N‐acetylglucosaminyltransferase subunit) cause an X‐linked congenital disorder of glycosylation (ALG13‐CDG) where…”
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Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG by Alsharhan, Hind, Ng, Bobby G., Daniel, Earnest James Paul, Friedman, Jennifer, Pivnick, Eniko K., Al‐Hashem, Amal, Faqeih, Eissa Ali, Liu, Pengfei, Engelhardt, Nicole M., Keller, Kierstin N., Chen, Jie, Mazzeo, Pamela A., Rosenfeld, Jill A., Bamshad, Michael J., Nickerson, Deborah A., Raymond, Kimiyo M., Freeze, Hudson H., He, Miao, Edmondson, Andrew C., Lam, Christina

“…Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause…”
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Acromegaly in the setting of Tatton-Brown-Rahman Syndrome by Hage, C., Sabini, E., Alsharhan, H., Fahrner, J. A., Beckers, A., Daly, A., Salvatori, R.

“…Purpose Tatton-Brown-Rahman syndrome (TBRS) is a newly defined genetic entity characterized by overgrowth and intellectual disability, resulting from germline…”
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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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Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype by Almoosawy, Noor, Albaghli, Fawaz, Al-Balool, Haya H, Fathi, Hanan, Zakaria, Waleed A, Ayed, Mariam, Alsharhan, Hind

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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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