Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Published in JIMD Reports, Volume 28 (01.01.2016)
Published in JIMD Reports, Volume 28 (01.01.2016)
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Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
Hertecant, Jozef L, Ben-Rebeh, Imen, Marah, Muhaned A, Abbas, Thikra, Ayadi, Leila, Ben Salem, Salma, Al-Jasmi, Fatma A, Al-Gazali, Lihadh, Al-Yahyaee, Said A, Ali, Bassam R
Published in European journal of medical genetics (01.12.2012)
Published in European journal of medical genetics (01.12.2012)
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Journal Article
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE
Al-Jasmi, Fatma A., Tawfig, Nafisa, Berniah, Ans, Ali, Bassam R., Taleb, Mahmoud, Hertecant, Jozef L., Bastaki, Fatma, Souid, Abdul-Kader
Published in JIMD Reports - Volume 10 (01.01.2013)
Published in JIMD Reports - Volume 10 (01.01.2013)
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Book Chapter
Journal Article
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population
Ben-Rebeh, Imen, Hertecant, Jozef L, Al-Jasmi, Fatma A, Aburawi, Hanan E, Al-Yahyaee, Said A, Al-Gazali, Lihadh, Ali, Bassam R
Published in Genetic testing and molecular biomarkers (01.05.2012)
Published in Genetic testing and molecular biomarkers (01.05.2012)
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Journal Article