Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

110 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.
Kingma SD, Bodamer OA, Wijburg FA. Kingma SD, et al. Among authors: bodamer oa. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987169 Review.
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.
Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDj. Fan YS, et al. Mol Cytogenet. 2013 Sep 20;6(1):38. doi: 10.1186/1755-8166-6-38. Mol Cytogenet. 2013. PMID: 24053112 Free PMC article.
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F. Peake RW, et al. Among authors: bodamer oa. Clin Chem. 2016 Nov;62(11):1430-1438. doi: 10.1373/clinchem.2016.258459. Epub 2016 Sep 14. Clin Chem. 2016. PMID: 27630153 Free PMC article. No abstract available.
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH. De Jesus VR, et al. Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6. Clin Chem. 2009. PMID: 18988750
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. Ebrahimi-Fakhari D, et al. Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10. Mov Disord Clin Pract. 2018. PMID: 29930972 Free PMC article.
Newborn Screening for Lysosomal Storage Disorders.
Peake RW, Bodamer OA. Peake RW, et al. Among authors: bodamer oa. J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2. J Pediatr Genet. 2017. PMID: 28180027 Free PMC article. Review.
Newborn Screening for Pompe Disease.
Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group. Bodamer OA, et al. Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C. Pediatrics. 2017. PMID: 29162673 Free article.
Diagnosing lysosomal storage disorders: Fabry disease.
Bodamer OA, Johnson B, Dajnoki A. Bodamer OA, et al. Curr Protoc Hum Genet. 2013;Chapter 17:Unit17.13. doi: 10.1002/0471142905.hg1713s77. Curr Protoc Hum Genet. 2013. PMID: 23595598
Diagnosing lysosomal storage disorders: Pompe disease.
Bodamer OA, Dajnoki A. Bodamer OA, et al. Curr Protoc Hum Genet. 2012 Oct;Chapter 17:Unit17.11. doi: 10.1002/0471142905.hg1711s75. Curr Protoc Hum Genet. 2012. PMID: 23074069
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Wang RY, et al. Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. Genet Med. 2011. PMID: 21502868
110 results
Jump to page