Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: crombez ea. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586
Maternal glutaric acidemia, type I identified by newborn screening.
Crombez EA, Cederbaum SD, Spector E, Chan E, Salazar D, Neidich J, Goodman S. Crombez EA, et al. Mol Genet Metab. 2008 May;94(1):132-4. doi: 10.1016/j.ymgme.2008.01.005. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18304851 Free PMC article.
Hyperargininemia due to liver arginase deficiency.
Crombez EA, Cederbaum SD. Crombez EA, et al. Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694174 Review.
Pitfalls in newborn screening.
Crombez E, Koch R, Cederbaum S. Crombez E, et al. J Pediatr. 2005 Jul;147(1):119-20. doi: 10.1016/j.jpeds.2005.03.041. J Pediatr. 2005. PMID: 16027710 No abstract available.
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. Smith L, et al. Mol Genet Metab. 2016 Feb;117(2):164-71. doi: 10.1016/j.ymgme.2015.05.012. Epub 2015 Jun 1. Mol Genet Metab. 2016. PMID: 26043810 Free article. Clinical Trial.
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A. Burton BK, et al. Among authors: crombez ea. J Inherit Metab Dis. 2007 Oct;30(5):700-7. doi: 10.1007/s10545-007-0605-z. Epub 2007 Sep 12. J Inherit Metab Dis. 2007. PMID: 17846916 Clinical Trial.
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Zimran A, et al. Am J Hematol. 2013 Mar;88(3):172-8. doi: 10.1002/ajh.23383. Epub 2013 Jan 22. Am J Hematol. 2013. PMID: 23339116 Free PMC article. Clinical Trial.
23 results