Publications by authors named "Stella A de Man"

13Publications

The c.1A > C start codon mutation in is associated with a protracted disease course.

JIMD Rep 2020 Mar 7;52(1):23-27. Epub 2020 Feb 7.

Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University Utrecht The Netherlands.

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http://dx.doi.org/10.1002/jmd2.12097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052694PMC
March 2020

Black discolouration of urine in two young sisters.

J Paediatr Child Health 2016 Jun;52(6):680-1

Department of Paediatrics, Amphia Hospital, Breda, The Netherlands.

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http://dx.doi.org/10.1111/jpc.13022DOI Listing
June 2016

Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children.

Pediatr Radiol 2016 Jun 30;46(7):1017-22. Epub 2016 Mar 30.

Department of General Practice and Intellectual Disability Medicine, University Medical Centre, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00247-016-3548-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4883271PMC
June 2016

[Health care transition in young people with intellectual disabilities: from generalist to generalist].

Ned Tijdschr Geneeskd 2014 ;158:A8072

Amphia Ziekenhuis, afd. Kindergeneeskunde, Breda.

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June 2015

[Fragile from an early age: osteoporosis in a child with multiple severe disabilities].

Ned Tijdschr Geneeskd 2014 ;158:A8017

Erasmus MC, afd. Huisartsgeneeskunde en Geneeskunde voor Verstandelijke Gehandicapten, Rotterdam.

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June 2015

Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review.

Dev Med Child Neurol 2009 Oct 8;51(10):773-8. Epub 2009 Jul 8.

Medical Department ASVZ, Care and Service Centre for People with Intellectual Disabilities, Sliedrecht, the Netherlands.

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http://doi.wiley.com/10.1111/j.1469-8749.2009.03384.x
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http://dx.doi.org/10.1111/j.1469-8749.2009.03384.xDOI Listing
October 2009

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Eur J Med Genet 2007 Mar-Apr;50(2):112-9. Epub 2006 Nov 3.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.006DOI Listing
May 2007