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

von Al-Shamsi, Aisha, Baker, Alastair, Dhawan, Anil, Hertecant, Jozef
Veröffentlicht in JIMD Rep (2016)

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

von Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.
Veröffentlicht in Orphanet J Rare Dis (2016)

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

von Narchi, Hassib, Alhefeiti, Suhailah, Althabahi, Fatmah, Hertecant, Jozef, Knisely, A. S., Souid, Abdul-Kader
Veröffentlicht in Saudi J Gastroenterol (2017)

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

von Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.
Veröffentlicht in Meta Gene (2016)

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

von Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania, Souid, Abdul-Kader, Al-Jasmi, Fatma
Veröffentlicht 2014

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

von Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Veröffentlicht in JIMD Rep (2015)

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

von Hamdoun, Osama, Al Mulla, Asia, Al Zaabi, Shamma, Shendi, Hiba, Al Ghamdi, Sharifa, Hertecant, Jozef, Al-Shibli, Amar
Veröffentlicht in Case Rep Pediatr (2020)

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

von Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W
Veröffentlicht in J Cent Nerv Syst Dis (2020)

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

von Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh
Veröffentlicht in Metab Brain Dis (2014)

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

von Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh
Veröffentlicht in Orphanet J Rare Dis (2016)

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

von Al-Jasmi, Fatma A., Tawfig, Nafisa, Berniah, Ans, Ali, Bassam R., Taleb, Mahmoud, Hertecant, Jozef L., Bastaki, Fatma, Souid, Abdul-Kader
Veröffentlicht 2013

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

von Ben-Rebeh, Imen, Hertecant, Jozef L., Al-Jasmi, Fatma A., Aburawi, Hanan E., Al-Yahyaee, Said A., Al-Gazali, Lihadh, Ali, Bassam R.
Veröffentlicht 2012

Chylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

von 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.
Veröffentlicht 2010

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

von 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
Veröffentlicht in Sci Rep (2019)

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

von 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
Veröffentlicht in Brain (2015)

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

von 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.
Veröffentlicht in Mol Genet Metab (2018)

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

von Lee, Melissa, Vecchio-Pagán, Briana, Sharma, Neeraj, Waheed, Abdul, Li, Xiaopeng, Raraigh, Karen S., Robbins, Sarah, Han, Sangwoo T., Franca, Arianna L., Pellicore, Matthew J., Evans, Taylor A., Arcara, Kristin M., Nguyen, Hien, Luan, Shan, Belchis, Deborah, Hertecant, Jozef, Zabner, Joseph, Sly, William S., Cutting, Garry R.
Veröffentlicht in Hum Mol Genet (2016)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

von Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Veröffentlicht in Hum Mutat (2018)

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

von Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Veröffentlicht 2013

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

von van Vliet, Danique, van Wegberg, Annemiek M.J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L., Leuzzi, Vincenzo, Mathisen, Per, Nardecchia, Francesca, Powell, Kimberly K., Rutsch, Frank, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Veröffentlicht in Nutrients (2019)