Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Seham Alameer"'
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:
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
Abstract Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolat
Externí odkaz:
https://doaj.org/article/8060cfefccbf4f1692d0ea57083765cf
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Autor:
Mohammed Almannai, Fowzan S. Alkuraya, Ali Al-Otaibi, Naif A.M. Almontashiri, Lamya Jad, Essa Alharby, Makki Almuntashri, Dimah Zaytuni, Abdullah M Alnawfal, Mohammed A. Saleh, Majid Alfadhel, Manar A. Samman, Mais Hashem, Ghadeer Alharbi, Ali H Alwadei, Eissa Faqeih, Seham Alameer, Roy W A Peake, Annalisa Pastore, Ali Alasmari, Adel A H Mahmoud, Wafaa Eyaid, Fahad Al-Hakami
Publikováno v:
Genetics in Medicine. 22:2071-2080
Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further d
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
Autor:
Abeer Al-Sofyani, Saud F. Alshaikh, Meshari A. Turjoman, Eman Althobaiti, Anwar Borai, Seham Alameer, Feras Badriq, Mohammed Mujalled
Publikováno v:
Journal of Clinical Laboratory Analysis
Background Cord‐blood and heel‐prick TSH levels are essential in diagnosing and preventing the serious complications of congenital hypothyroidism, which mainly include intellectual disability. The study aimed to compare between cord‐blood and h
Autor:
Seham Alameer, Tobias Schwerd, Giuseppe Indolfi, Joseph A. Church, Adelheid Cerwenka, Dominic Lenz, Ivo Barić, Jidnyasa Gujar, Thomas Giese, Johann Greil, Christian Staufner, Jens Pahl, Felix Distelmaier, Georg F. Hoffmann, Eberhard Lurz, Nikolas Boy, Anke Dick, Bianca Peters, Ellen Crushell, Holger Prokisch, Christoph Klein, Meena Balasubramanian, Stefan Kölker, Fabian Hauck, Daniele Serranti
Publikováno v:
J. Clin. Immunol., DOI: 10.1007/s10875-021-01110-7 (2021)
Journal of Clinical Immunology
Journal of Clinical Immunology
Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7176568d4fc4003562f22a1716e15672
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
Autor:
Eleonora Lamantea, Robert McFarland, Langping He, Alessia Nasca, Anna Ardissone, Daniele Ghezzi, Kyle Thompson, Andrea Legati, Charlotte L. Alston, Seham Alameer, Robert W. Taylor, Fahad Hakami, Monika Oláhová, Abeer Almehdar, Juliana Heidler, Ahmad Alahmad, Ilka Wittig, Jana Meisterknecht, Manuela Spagnolo
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
EMBO Molecular Medicine
EMBO Molecular Medicine
Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respir
Autor:
Seham Alameer, Carlo Dionisi-Vici, Fabian Hauck, Joseph A. Church, Martin W. Laass, Georg F. Hoffmann, Christoph Klein, Matias Wagner, Dominic Lenz, Nedim Hadzic, Theresia Herget, Jerry Vockley, Pierre Broué, Nicola Dikow, Sven F. Garbade, Korbinian M. Riedhammer, Robert Kopajtich, Robert Hegarty, Eberhard Lurz, Elke Lainka, Alice Kuster, Holger Prokisch, Neslihan Önenli Mungan, Patrick J. McKiernan, Derya Bulut, Ivo Barić, Robert B. Russell, Felix Distelmaier, Catherine Larson-Nath, René Santer, Vassiliki Konstantopoulou, Maja Hempel, François Feillet, Alexander Leibner, Emmanuel Gonzales, Stefan Kölker, Ute Moog, Christian Staufner, Anke Dick, Gaurav D. Diwan, Arnaud Wiedemann, Johannes A. Mayr, Dominik S. Westphal, Irene Valenzuela Palafoll, Neslihan Ekşi Bozbulut, Bianca Peters, Buket Dalgic, Anibh M. Das, Ellen Crushell, Saskia B. Wortmann, Karine Mention
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0698-4⟩
Genet. Med. 22, 610-621 (2020)
Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0698-4⟩
Genet. Med. 22, 610-621 (2020)
Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a66f545c596a4d2970184525257c61
https://avesis.gazi.edu.tr/publication/details/438f8e81-8c68-4672-8eba-f441bd974ee0/oai
https://avesis.gazi.edu.tr/publication/details/438f8e81-8c68-4672-8eba-f441bd974ee0/oai
Autor:
Hanadi A. Abdelrahman, Arndt Rolfs, Fahad Al-Hakami, L.I. Al-Gazali, Nouriya Al-Sannaa, Aida M. Bertoli-Avella, Peter Bauer, Halenur Yavuz, A.A. Elmonairy, A.M. Al Shamsi, Aiman Shawli, Seham Alameer, Krishna Kumar Kandaswamy, Oliver Brandau, Majid Alfadhel, Khalid Al-Thihli, Caterina Baldi
Publikováno v:
Clinical Genetics. 93:1087-1092
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel
Autor:
Oliver Brandau, Omid Paknia, Anett Marais, Lia Abbasi Moheb, Makia J. Marafi, Peter Bauer, Nouriya Al-Sannaa, Arndt Rolfs, Seham Alameer, Fahad Al-Hakami, Nana-Maria Grüning, Zafer Yüksel, Nahla Alshaikh, Aida M. Bertoli-Avella, Fahd Al-Mulla, Jose Maria Garcia-Aznar
Publikováno v:
European Journal of Human Genetics. 26:592-598
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independen