Liebl B - Search Results

1

Data required for the evaluation of newborn screening programmes.

Liebl B, Nennstiel-Ratzel U, Roscher A, von Kries R. Liebl B, et al. Eur J Pediatr. 2003 Dec;162 Suppl 1:S57-61. doi: 10.1007/s00431-003-1354-0. Epub 2003 Nov 13. Eur J Pediatr. 2003. PMID: 14615887 Review.

2

Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA. Liebl B, et al. Prev Med. 2002 Feb;34(2):127-31. doi: 10.1006/pmed.2001.0952. Prev Med. 2002. PMID: 11817906

3

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Hoffmann GF, von Kries R, Klose D, Lindner M, Schulze A, Muntau AC, Röschinger W, Liebl B, Mayatepek E, Roscher AA. Hoffmann GF, et al. Among authors: liebl b. Eur J Pediatr. 2004 Feb;163(2):76-80. doi: 10.1007/s00431-003-1246-3. Epub 2004 Jan 9. Eur J Pediatr. 2004. PMID: 14714182

4

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA. Maier EM, et al. Among authors: liebl b. Hum Mutat. 2005 May;25(5):443-52. doi: 10.1002/humu.20163. Hum Mutat. 2005. PMID: 15832312

5

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

Nennstiel-Ratzel U, Arenz S, Maier EM, Knerr I, Baumkötter J, Röschinger W, Liebl B, Hadorn HB, Roscher AA, von Kries R. Nennstiel-Ratzel U, et al. Among authors: liebl b. Mol Genet Metab. 2005 Jun;85(2):157-9. doi: 10.1016/j.ymgme.2004.12.010. Epub 2005 Feb 12. Mol Genet Metab. 2005. PMID: 15896661

6

Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.

Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA. Liebl B, et al. Prev Med. 2002 Feb;34(2):132-7. doi: 10.1006/pmed.2001.0954. Prev Med. 2002. PMID: 11817907

7

Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases.

Röschinger W, Olgemöller B, Fingerhut R, Liebl B, Roscher AA. Röschinger W, et al. Among authors: liebl b. Eur J Pediatr. 2003 Dec;162 Suppl 1:S67-76. doi: 10.1007/s00431-003-1356-y. Epub 2003 Nov 14. Eur J Pediatr. 2003. PMID: 14618396 Review.

8

[Model project for reorganising of newborn screening].

Nennstiel-Ratzel U, Liebl B, Zapf A. Nennstiel-Ratzel U, et al. Among authors: liebl b. Gesundheitswesen. 2003 Mar;65 Suppl 1:S31-5. doi: 10.1055/s-2003-38117. Gesundheitswesen. 2003. PMID: 12649792 German.

9

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].

Maier EM, Pongratz J, Muntau AC, Liebl B, Nennstiel-Ratzel U, Busch U, Fingerhut R, Olgemöller B, Roscher AA, Röschinger W. Maier EM, et al. Among authors: liebl b. Clin Genet. 2009 Aug;76(2):179-87. doi: 10.1111/j.1399-0004.2009.01217.x. Clin Genet. 2009. PMID: 19780764

10

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: liebl b. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865

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