Bodamer O - Search Results

1

Early access experience with VPRIV(®): recommendations for 'core data' collection.

Hughes DA, Al-Sayed M, Belmatoug N, Bodamer O, Böttcher T, Cappellini M, Cohen IJ, Eagleton T, Elstein D, Giraldo P, Jones S, Kaplinsky C, Lund A, Machaczka M, Mengel E, Pastores GM, Rosenbaum H, Sjo M, Tiling N, Tsaftaridis P, Zimran A, Weinreb N. Hughes DA, et al. Among authors: bodamer o. Blood Cells Mol Dis. 2011 Aug 15;47(2):140-2. doi: 10.1016/j.bcmd.2010.10.015. Epub 2010 Dec 13. Blood Cells Mol Dis. 2011. PMID: 21146428 No abstract available.

2

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.

Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A, Zimran A. Hollak CE, et al. Among authors: bodamer o. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):86-7. doi: 10.1016/j.bcmd.2009.12.002. Blood Cells Mol Dis. 2010. PMID: 20022271 No abstract available.

3

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

Orenstein M, Barbouth D, Bodamer OA, Weinreb NJ. Orenstein M, et al. Orphanet J Rare Dis. 2014 Mar 31;9:45. doi: 10.1186/1750-1172-9-45. Orphanet J Rare Dis. 2014. PMID: 24685312 Free PMC article.

4

Protein, glucose and energy metabolism in Gaucher disease type I.

Bodamer OA, Vellodi A. Bodamer OA, et al. J Inherit Metab Dis. 2000 Feb;23(1):86-7. doi: 10.1023/a:1005611216218. J Inherit Metab Dis. 2000. PMID: 10682313 No abstract available.

5

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. Among authors: bodamer o. Mol Cytogenet. 2013 Sep 20;6(1):38. doi: 10.1186/1755-8166-6-38. Mol Cytogenet. 2013. PMID: 24053112 Free PMC article.

6

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Among authors: bodamer o. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

7

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 Free article.

8

Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population.

Veerapen MK, Pelaez L, Potter JE, Duthely L, Birusingh R, Rampersaud E, Bodamer OA, Rodriguez MM. Veerapen MK, et al. Fetal Pediatr Pathol. 2014 Aug;33(4):226-33. doi: 10.3109/15513815.2014.913749. Epub 2014 May 15. Fetal Pediatr Pathol. 2014. PMID: 24833307 Free PMC article.

9

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Bodamer OA, et al. Am J Med Genet. 2002 May 15;109(4):328-31. doi: 10.1002/ajmg.10385. Am J Med Genet. 2002. PMID: 11992489

10

Diagnosis of lysosomal storage disorders: Gaucher disease.

Johnson BA, Dajnoki A, Bodamer O. Johnson BA, et al. Among authors: bodamer o. Curr Protoc Hum Genet. 2014 Jul 14;82:17.15.1-17.15.6. doi: 10.1002/0471142905.hg1715s82. Curr Protoc Hum Genet. 2014. PMID: 25042717

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