Development and validation of a severity scoring system for Zellweger spectrum disorders

Author:

Klouwer F.C.C.12ORCID,Meester-Delver A.3,Vaz F.M.2,Waterham H.R.2,Hennekam R.C.M.4,Poll-The B.T.1

Affiliation:

1. Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

2. Laboratory Genetic Metabolic Diseases, Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

3. Department of Rehabilitation, Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

4. Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

Funder

Dutch Brain Society (Hersenstichting)

Metakids

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Biochemistry of mammalian peroxisomes revisited;Wanders;Annu Rev Biochem,2006

2. Zellweger spectrum disorders: clinical overview and management approach;Klouwer;Orphanet J Rare Dis,2015

3. Steinberg SJ Raymond GV Braverman NE Moser AB 2012 http://www.ncbi.nlm.nih.gov/books/NBK1448/

4. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders;Klouwer;J Inherit Metab Dis,2017

5. The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities;Meester-Delver;Dev Med Child Neurol,2007

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