Das AM - Search Results

1

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.

de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Among authors: das am. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.

2

Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study.

Lücke T, Das AM, Hartmann H, Sykora KW, Donnerstag F, Schmid-Ott G, Grigull L. Lücke T, et al. Among authors: das am. Dev Med Child Neurol. 2007 Sep;49(9):693-6. doi: 10.1111/j.1469-8749.2007.00693.x. Dev Med Child Neurol. 2007. PMID: 17718826 Free article.

3

Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

Illsinger S, Lücke T, Hartmann H, Mengel E, Müller-Forell W, Donnerstag F, Das AM. Illsinger S, et al. Among authors: das am. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S321-5. doi: 10.1007/s10545-009-1265-y. Epub 2009 Nov 4. J Inherit Metab Dis. 2009. PMID: 19894140

4

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann GF, Häberle J. Unsinn C, et al. Orphanet J Rare Dis. 2016 Aug 19;11(1):116. doi: 10.1186/s13023-016-0493-0. Orphanet J Rare Dis. 2016. PMID: 27538463 Free PMC article.

5

Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).

Grigull L, Beilken A, Schrappe M, Das A, Luecke T, Sander A, Stanulla M, Rehe K, Sauer M, Schmid H, Welte K, Lukacs Z, Gal A, Sykora KW. Grigull L, et al. Bone Marrow Transplant. 2005 Feb;35(3):265-9. doi: 10.1038/sj.bmt.1704786. Bone Marrow Transplant. 2005. PMID: 15580280 Clinical Trial.

6

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442

7

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: das am. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.

8

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Among authors: das am. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Free article.

9

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: das am. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010

10

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638

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