Bodamer O - Search Results

1

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.

2

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.

3

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: bodamer oa. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081

4

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.

5

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

6

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

7

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.

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

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.

10

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B. Palmio J, et al. Among authors: bodamer o. Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25047669

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