Publications by authors named "Miski Mohamed"

17Publications

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

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

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

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Mol Genet Metab 2012 Apr 13;105(4):681-3. Epub 2012 Feb 13.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.02.001DOI Listing
April 2012

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

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