Jozef Hertecant

Jozef Hertecant

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Jozef Hertecant

Jozef Hertecant

Publications by authors named "Jozef Hertecant"

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40Publications

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Am J Hum Genet 2019 May 11;104(5):835-846. Epub 2019 Apr 11.

Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193009
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http://dx.doi.org/10.1016/j.ajhg.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506806PMC
May 2019

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Epileptic Disord 2018 Oct;20(5):401-412

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, Department of Pediatrics, College of Medicine and Health Sciences UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1684/epd.2018.1005DOI Listing
October 2018

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 09 28;176(9):1996-2003. Epub 2018 Jul 28.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018

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

Mol Genet Metab 2018 06 6;124(2):161-167. Epub 2018 Apr 6.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183004
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http://dx.doi.org/10.1016/j.ymgme.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976541PMC
June 2018

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

Saudi J Gastroenterol 2017 Sep-Oct;23(5):303-305

Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates.

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http://dx.doi.org/10.4103/sjg.SJG_178_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625368PMC
May 2018

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Eur J Med Genet 2017 Apr 24;60(4):212-216. Epub 2017 Jan 24.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.004DOI Listing
April 2017

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

Orphanet J Rare Dis 2016 10 21;11(1):139. Epub 2016 Oct 21.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s13023-016-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073853PMC
October 2016

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

Meta Gene 2016 Sep 18;9:124-7. Epub 2016 May 18.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.mgene.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908276PMC
September 2016

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

Orphanet J Rare Dis 2016 07 8;11(1):94. Epub 2016 Jul 8.

Department of Pediatrics, United Arab Emirates University, P.O. Box 17666, Al-Ain, UAE.

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http://dx.doi.org/10.1186/s13023-016-0474-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939014PMC
July 2016

On the phenotypic spectrum of serine biosynthesis defects.

J Inherit Metab Dis 2016 05 10;39(3):373-381. Epub 2016 Mar 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s10545-016-9921-5DOI Listing
May 2016

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

JIMD Rep 2016 28;30:59-62. Epub 2016 Apr 28.

Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/8904_2016_532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110448PMC
April 2016

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

Metab Brain Dis 2015 Jun 17;30(3):687-94. Epub 2014 Sep 17.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s11011-014-9618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915861PMC
June 2015

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Eur J Pediatr 2015 May 12;174(5):661-8. Epub 2014 Nov 12.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, 17666, United Arab Emirates,

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http://link.springer.com/10.1007/s00431-014-2449-5
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http://dx.doi.org/10.1007/s00431-014-2449-5DOI Listing
May 2015

Zellweger syndrome and secondary mitochondrial myopathy.

Eur J Pediatr 2015 Apr 7;174(4):557-63. Epub 2014 Oct 7.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK,

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http://dx.doi.org/10.1007/s00431-014-2431-2DOI Listing
April 2015

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

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http://doi.wiley.com/10.1002/humu.22715
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http://dx.doi.org/10.1002/humu.22715DOI Listing
January 2015

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

Sultan Qaboos Univ Med J 2014 Feb 27;14(1):e42-9. Epub 2014 Jan 27.

Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916276PMC
February 2014

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Birth Defects Res A Clin Mol Teratol 2013 Dec 6;97(12):764-9. Epub 2013 Sep 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University.

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http://dx.doi.org/10.1002/bdra.23170DOI Listing
December 2013

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Genet Test Mol Biomarkers 2012 May 22;16(5):366-71. Epub 2011 Nov 22.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1089/gtmb.2011.0175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354585PMC
May 2012

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Saudi Med J 2011 Apr;32(4):353-9

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates.

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April 2011

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Saudi Med J 2009 Dec;30(12):1601-3

Department of Pediatrics, Tawam Hospital, United Arab Emirates University, Al-Ain, United Arab Emirates.

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December 2009