Burgard P - Search Results

1

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF. Burgard P, et al. J Inherit Metab Dis. 2016 Mar;39(2):219-29. doi: 10.1007/s10545-015-9901-1. Epub 2015 Dec 3. J Inherit Metab Dis. 2016. PMID: 26634836

2

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Lindner M, et al. Among authors: burgard p. Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168. Mol Genet Metab. 2001. PMID: 11350190

3

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. Lindner M, et al. Among authors: burgard p. Hum Mutat. 2003 Apr;21(4):400. doi: 10.1002/humu.9117. Hum Mutat. 2003. PMID: 12655554

4

Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.

Kölker S, Burgard P, Okun JG, Schulze-Bergkamen A, Assmann B, Greenberg CR, Hoffmann GF. Kölker S, et al. Among authors: burgard p. J Inherit Metab Dis. 2004;27(6):921-6. doi: 10.1023/B:BOLI.0000045778.73581.7d. J Inherit Metab Dis. 2004. PMID: 15505401 Review.

5

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF. Hartmann S, et al. Among authors: burgard p. Clin Chem. 2006 Jun;52(6):1127-37. doi: 10.1373/clinchem.2005.058842. Epub 2006 Apr 13. Clin Chem. 2006. PMID: 16613999

6

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: burgard p. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220

7

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: burgard p. J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. J Inherit Metab Dis. 2007. PMID: 17203377

8

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P. Haas D, et al. Among authors: burgard p. J Inherit Metab Dis. 2007 Jun;30(3):375-87. doi: 10.1007/s10545-007-0537-7. Epub 2007 May 11. J Inherit Metab Dis. 2007. PMID: 17497248 Clinical Trial.

9

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Hörster F, et al. Among authors: burgard p. Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f. Pediatr Res. 2007. PMID: 17597648

10

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: burgard p. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945

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