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

Tekijä Al-Shamsi, Aisha, Baker, Alastair, Dhawan, Anil, Hertecant, Jozef
Julkaisussa JIMD Rep (2016)

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

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

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

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

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

Tekijä Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.
Julkaisussa 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Tekijä 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.
Julkaistu 2010

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

Tekijä 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
Julkaisussa Sci Rep (2019)

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

Tekijä 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
Julkaisussa Brain (2015)

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

Tekijä 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.
Julkaisussa Mol Genet Metab (2018)

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

Tekijä 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.
Julkaisussa Hum Mol Genet (2016)

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

Tekijä 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
Julkaisussa Hum Mutat (2018)

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

Tekijä 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.
Julkaistu 2013

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

Tekijä 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.
Julkaisussa Nutrients (2019)