Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ahmed Al-Fares"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 26-30 (2018)
Background: Measurement of branched-chain amino acids (BCAAs) [valine (Val), alloisoleucine (allo-Ile), isoleucine (Ile), and leucine (Leu)] in plasma and dry blood spot samples is important for the diagnosis and monitoring of maple syrup urine disea
Externí odkaz:
https://doaj.org/article/6ab76d17915e44e4b6eb958bb45cdbea
Autor:
Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100817- (2021)
Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers. Materials and metho
Externí odkaz:
https://doaj.org/article/c4b2ccc840924523844974e84f463f3a
Autor:
Majid Alfadhel, Anar Alfarsi, Ahmed Al Fares, Faroug Ababneh, Brahim Tabarki, Fuad Al Mutairi, Seham Alameer, Amal Alhashem
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100817-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers. Materials and method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2145df4188590e417a2497adf277730
http://www.sciencedirect.com/science/article/pii/S2214426921001129
http://www.sciencedirect.com/science/article/pii/S2214426921001129
Autor:
Flavia Palombo, Maarten Fornerod, Grazia M.S. Mancini, Joseph G. Gleeson, Lily Bazak, Esmee Kasteleijn, Natalia Ordonez-Herrera, Milena Laure-Kamionowska, Fowzan S. Alkuraya, Pawel Gawlinski, William B. Dobyns, Mariasavina Severino, Marjolein H G Dremmen, Marco Seri, Marie Claire Y. de Wit, Robert B. Hufnagel, Ghayda Mirzaa, Laura Vandervore, Rachel Schot, Maarten H. Lequin, Lina Basel-Salmon, Arndt Rolfs, Robert J. Hopkin, Ahmed Al Fares, Nicola Brunetti-Pierri, Bella Davidov, Gerarda Cappuccio, Maria Teresa Divizia, Rolf W. Stottmann, Daphne J. Smits, Aida M. Bertoli-Avella, Wojciech Wiszniewski, Damir Musaev, Valentina Stanley, Hanah Akleh, Peter Bauer, Amal Alhashem, Martina Wilke, Jeroen Demmers, Malak Al Ghamdi, Marjon van Slegtenhorst, Pasquale Striano, Mees van der Ent, Pamela Magini, Tommaso Pippucci, Marta Columbaro, Maha S. Zaki, Anna Jansen, Deema Aljeaid, Peter J. van der Spek, Noa Ruhrman Shahar, Frans W. Verheijen
Publikováno v:
American Journal of Human Genetics, 105(4), 689-705. Cell Press
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. Children from 12 unrelated families presented with microcephaly, simplifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2925851eb5a1d6d25eae66765e184d
https://pure.eur.nl/en/publications/33486e7c-9ab9-4b4f-97ca-3cd94a79b93f
https://pure.eur.nl/en/publications/33486e7c-9ab9-4b4f-97ca-3cd94a79b93f