Search Results - Hertecant, Jozef

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  1. 1
    Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

    Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor by Al-Shamsi, Aisha, Baker, Alastair, Dhawan, Anil, Hertecant, Jozef

    Published 2016
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  2. 2
    Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

    Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene by Al Dhahouri, Nahid, Ali, Amanat, Hertecant, Jozef, Al-Jasmi, Fatma

    Published 2022
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  3. 3
    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates by Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.

    Published 2016
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  4. 4
    Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

    Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) by Narchi, Hassib, Alhefeiti, Suhailah, Althabahi, Fatmah, Hertecant, Jozef, Knisely, A. S., Souid, Abdul-Kader

    Published 2017
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  5. 5
    A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

    A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract by Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.

    Published 2016
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  6. 6
    Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates

    Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates by Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania, Souid, Abdul-Kader, Al-Jasmi, Fatma

    Published 2014
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  7. 7
    Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)

    Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014) by Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader

    Published 2015
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  8. 8
    Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

    Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency by Hamdoun, Osama, Al Mulla, Asia, Al Zaabi, Shamma, Shendi, Hiba, Al Ghamdi, Sharifa, Hertecant, Jozef, Al-Shibli, Amar

    Published 2020
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  9. 9
    Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

    Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases by Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W

    Published 2020
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  10. 10
    Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

    Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay by Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh

    Published 2014
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  11. 11
    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement by Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh

    Published 2016
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  12. 12
    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE by Al-Jasmi, Fatma A., Tawfig, Nafisa, Berniah, Ans, Ali, Bassam R., Taleb, Mahmoud, Hertecant, Jozef L., Bastaki, Fatma, Souid, Abdul-Kader

    Published 2013
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  13. 13
    Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

    Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population by Ben-Rebeh, Imen, Hertecant, Jozef L., Al-Jasmi, Fatma A., Aburawi, Hanan E., Al-Yahyaee, Said A., Al-Gazali, Lihadh, Ali, Bassam R.

    Published 2012
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  14. 14
    De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

    De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy by Stringer, Robin N., Jurkovicova-Tarabova, Bohumila, Souza, Ivana A., Ibrahim, Judy, Vacik, Tomas, Fathalla, Waseem Mahmoud, Hertecant, Jozef, Zamponi, Gerald W., Lacinova, Lubica, Weiss, Norbert

    Published 2021
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  15. 15
    Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

    Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1 by Grammatikopoulos, Tassos, Hadzic, Nedim, Foskett, Pierre, Strautnieks, Sandra, Samyn, Marianne, Vara, Roshni, Dhawan, Anil, Hertecant, Jozef, Al Jasmi, Fatma, Rahman, Obydur, Deheragoda, Maesha, Bull, Laura N., Thompson, Richard J

    Published 2021
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  16. 16
    Chylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

    Chylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects by Franssen, Remco, Young, Stephen G., Peelman, Frank, Hertecant, Jozef, Sierts, Jeroen A., Schimmel, Alinda W. M., Bensadoun, André, Kastelein, John J.P., Fong, Loren G., Dallinga-Thie, Geesje M., Beigneux, Anne P.

    Published 2010
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  17. 17
    Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

    Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism by Al-Dirbashi, Osama Y., Alfadhel, Majid, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef, Okun, Jürgen G., Hoffmann, Georg F., Al-Jasmi, Fatma

    Published 2019
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  18. 18
    Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

    Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients by Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma

    Published 2021
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  19. 19
    A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

    A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development by Nahorski, Michael S., Al-Gazali, Lihadh, Hertecant, Jozef, Owen, David J., Borner, Georg H. H., Chen, Ya-Chun, Benn, Caroline L., Carvalho, Ofélia P., Shaikh, Samiha S., Phelan, Anne, Robinson, Margaret S., Royle, Stephen J., Woods, C. Geoffrey

    Published 2015
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  20. 20
    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies by Rodan, Lance H., Hauptman, Marissa, D’Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B.

    Published 2018
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