Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Roy W. A. Peake"'
Autor:
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible
Externí odkaz:
https://doaj.org/article/14f787f239734944a06747ee7ac1581c
Autor:
Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W. A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming
Publikováno v:
Haematologica, Vol 103, Iss 12 (2018)
Externí odkaz:
https://doaj.org/article/56c46da1418146a388fbc5266ced1110
Autor:
Mariana B. M. de Moraes, Hygor M. R. de Souza, Maria L. C. de Oliveira, Roy W. A. Peake, Fernanda B. Scalco, Rafael Garrett
Publikováno v:
Metabolomics. 19
Autor:
Monis Bilal Shamsi, Ali Alasmari, Mohamed Saleh, Makki Almuntashri, Manar Samman, Fatima Al-Fadhli, Eissa Faqeih, Naif A.M. Almontashiri, Roy W A Peake, Essa Alharby
Publikováno v:
Journal of Human Genetics. 66:689-695
Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing los
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
Publikováno v:
Clinical Chemistry. 68:1221-1222
Publikováno v:
Clinical Chemistry. 67:912-914
Autor:
David A. Sweetser, Joshua Baker, Roy W A Peake, Alexander P. Lin, Kris M. Mogensen, Joel B. Krier, Andrew B. Stergachis, Inderneel Sahai, Gerard T. Berry, Charbel C. Khoury, Ebrahim Barkoudah
Publikováno v:
Journal of Inherited Metabolic Disease. 43:1165-1172
Adult-onset noncirrhotic hyperammonemia (NCH) is poorly understood and has a high morbidity and mortality. To elucidate the etiology and management of NCH, we performed a retrospective analysis of 23 adults (median age 51) with NCH treated between 20
Publikováno v:
Clinica Chimica Acta. 505:31-33
Background Vitamin A and E are routinely monitored to assess nutritional status. The most commonly used approach for their measurement involves laborious liquid-liquid extraction followed by high-performance liquid chromatography (HPLC) analysis on d
Publikováno v:
Clinical Chemistry. 66:739-741