Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Dina G. Ramadan"'
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:
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
Autor:
Fatma El-Sabban, Haya Alkhayyat, Khalid Hussain, Dina G Ramadan, Saji Alexander, K.C. Aboo Backer, Ibrahim Al-Sharkawi
Publikováno v:
American journal of medical genetics. Part A. 139(3)
Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b11f58e2c1eade5993704d7056ccaea
https://pubmed.ncbi.nlm.nih.gov/16278907
https://pubmed.ncbi.nlm.nih.gov/16278907
Publikováno v:
Braindevelopment. 28(5)
Ethylmalonic encephalopathy is a rare metabolic disease presenting in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea and early death. The biochemical characteristics of this autosomal recessive disease are urinary organic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02025b4269c8b327c2aad2ab62955e6d
https://pubmed.ncbi.nlm.nih.gov/16376514
https://pubmed.ncbi.nlm.nih.gov/16376514
Autor:
Albert Aynsley-Green, Kaukat Rajput, Mark J. Dunne, Dorothy A. Thompson, Maria Bitner-Glindzicz, Keith J. Lindley, Z. AL-Mazidi, Dina G Ramadan, Tony Kriss, Karen E. Cosgrove, Diana C. Blaydon, Khalid Hussain
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 17
We describe the clinical features of a new syndrome causing hyperinsulinism in infancy (HI), severe enteropathy, profound sensorineural deafness, and renal tubulopathy in three children born to two pairs of consanguineous parents. This combination of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9a74d12ce8b8ed98006d280dc32adf
https://doi.org/10.1515/jpem.2004.17.12.1613
https://doi.org/10.1515/jpem.2004.17.12.1613