Publications by authors named "Thatjana Gardeitchik"

28Publications

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med 2019 03;12(3):e002395

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing
March 2019

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Pediatr Clin North Am 2018 04;65(2):375-388

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313955173018
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http://dx.doi.org/10.1016/j.pcl.2017.11.012DOI Listing
April 2018

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Eur J Paediatr Neurol 2014 Jul 28;18(4):511-5. Epub 2014 Feb 28.

Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.01.003DOI Listing
July 2014

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Am J Med Genet A 2014 Apr 23;164A(4):1049-55. Epub 2014 Jan 23.

Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.36392DOI Listing
April 2014

Cutis Laxa.

Adv Exp Med Biol 2014 ;802:161-84

Radboud University Nijmegen Medical Center, IGMD, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/978-94-007-7893-1_11DOI Listing
May 2014

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

J Inherit Metab Dis 2014 May 31;37(3):383-90. Epub 2013 Oct 31.

Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.

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http://link.springer.com/10.1007/s10545-013-9660-9
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http://dx.doi.org/10.1007/s10545-013-9660-9DOI Listing
May 2014

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

Early clinical manifestations and eating patterns in patients with urea cycle disorders.

J Pediatr 2012 Aug 16;161(2):328-32. Epub 2012 Mar 16.

Department of Metabolic Genetics, Murdoch Children's Research Institute and Royal Children's Hospital, Melbourne, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476120013
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http://dx.doi.org/10.1016/j.jpeds.2012.02.006DOI Listing
August 2012

Metabolic cutis laxa syndromes.

J Inherit Metab Dis 2011 Aug 23;34(4):907-16. Epub 2011 Mar 23.

Institute for Genetic and Metabolic Disease, Radboud University Medical Centre Nijmegen, P.O Box 9101, 6500, HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9305-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137780PMC
August 2011