Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hind AlSharhan"'
Autor:
Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene. Early treatment with hematopoietic ste
Externí odkaz:
https://doaj.org/article/55229be0408f4bd5805919feb32bcfde
Autor:
Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with
Externí odkaz:
https://doaj.org/article/24ae6e5fe6ee456cbc8b7a2bb5c1a858
Autor:
Mohammad Z. Haider, Maysoun Al Rushood, Hind Alsharhan, Majedah A. Rasoul, Maria Al-Mahdi, Hessa Al-Kandari
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundType-1 diabetes mellitus (T1DM) is a complex multifactorial disease with an autoimmune etiology and is thought to result from an interaction between genetic and non-genetic factors. Cytokines play a crucial role in the pathogenesis of autoi
Externí odkaz:
https://doaj.org/article/ae27abe366e4492fabb9f15ff7617d41
Autor:
Hind Alsharhan, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 56 (2021)
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 a wide range of endocrine and metabolic disorders. A retrospective study conducted between
Externí odkaz:
https://doaj.org/article/54db8a5df6094413847ca59116a38202
Autor:
Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan
Publikováno v:
American Journal of Medical Genetics Part A. 191:1401-1411
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a272dc7d34a8fca5ec9ce67673f0e11
https://doi.org/10.1002/ajmg.a.63143
https://doi.org/10.1002/ajmg.a.63143
Autor:
Eissa Faqeih, Jennifer Friedman, Hudson H. Freeze, Kierstin N Keller, Miao He, Earnest James Paul Daniel, Jie Chen, Hind Alsharhan, Eniko K. Pivnick, Christina Lam, Nicole Engelhardt, Amal Alhashem, Michael J. Bamshad, Deborah A. Nickerson, Pengfei Liu, Kimiyo Raymond, Pamela A Mazzeo, Jill A. Rosenfeld, Bobby G. Ng, Andrew C. Edmondson
Publikováno v:
J Inherit Metab Dis
Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2ccc5c959676b58b2731f7c6d8e242
https://doi.org/10.1002/jimd.12367
https://doi.org/10.1002/jimd.12367
Autor:
Hind Alsharhan, Jill A. Fahrner, Albert Beckers, Camille Hage, Elena Sabini, Adrian Daly, Roberto Salvatori
Publikováno v:
Pituitary. 23:167-170
Tatton-Brown-Rahman syndrome (TBRS) is a newly defined genetic entity characterized by overgrowth and intellectual disability, resulting from germline mutations in the gene encoding DNA methyltransferase 3 alpha (DNMT3A). Affected individuals with be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71abc784ed40909c92f2a41dd508edd7
https://doi.org/10.1007/s11102-019-01019-w
https://doi.org/10.1007/s11102-019-01019-w
Autor:
Parakkal Xavier Cyril, Laila Bastaki, Rehab M Abdelrahman, Naser M Ali, Yasser M E Elfeky, Ahmad Alahmad, Amir A Ahmed, Yadav Girish, Dina G Ramadan, Sumaya Alkanderi, Usama M Elkazzaz, Rasha Alsafi, Sara D Al-Enezi, Reem M Elshafie, Alaa A Elmonairy, Mohammad Al-Ali, Hind Alsharhan, Doaa I. Sadik, Buthaina Albash, Ayman M Salloum, Samia M Ibrahim, May Al-Rushood
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 56, p 56 (2021)
Volume 7
Issue 3
International Journal of Neonatal Screening, Vol 7, Iss 56, p 56 (2021)
Volume 7
Issue 3
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 a wide range of endocrine and metabolic disorders. A retrospective study conducted between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f9ef2c4fcf72551e37e3ff92e96f59
https://pubmed.ncbi.nlm.nih.gov/34449519
https://pubmed.ncbi.nlm.nih.gov/34449519
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
Defects of mitoribosome assembly with destabilization of mitochondrial ribosomal proteins and subsequent aberrant mitochondrial translation machinery are one of the emerging categories of human mitochondrial disease. Mitochondrial translation deficie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3702338843ebf1023075f48f9e10f8
https://pubmed.ncbi.nlm.nih.gov/34008913
https://pubmed.ncbi.nlm.nih.gov/34008913
Autor:
Wallid Deb, Elizabeth Jones, Earnest James Paul Daniel, Jie Chen, Bobby G. Ng, Dong Li, David J. Amor, Elizabeth J. Bhoj, Miao He, Michael C. Kruer, John Christodoulou, Hudson H. Freeze, Tyhiesia Donald, Sheng Chih Jin, Richard Webster, Kaya Bilguvar, Kimiyo Raymond, Andrew K. Sobering, Hind Alsharhan, Arend H. Werners, Andrew C. Edmondson, Somayeh Bakhtiari, Marie Vincent, Benjamin Cogné, Grace Vassallo, Katherine Yearwood
Publikováno v:
J Inherit Metab Dis
Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4efda8bc082de208f19b4aa20af8406b
https://pubmed.ncbi.nlm.nih.gov/33734437
https://pubmed.ncbi.nlm.nih.gov/33734437