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ArticlesPeer ReviewedFull Text
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Author / Creator:Vill, Katharina ; Schwartz, Oliver ; Blaschek, Astrid ; Gläser, Dieter ; Nennstiel, Uta ; Wirth, Brunhilde ; Burggraf, Siegfried ; Röschinger, Wulf ; Becker, Marc ; Czibere, Ludwig ; Durner, Jürgen ; Eggermann, Katja ; Olgemöller, Bernhard ; Harms, Erik ; Schara, Ulrike ; Kölbel, Heike ; Müller-Felber, Wolfgang
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.153-153, Article 153
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ArticlesPeer ReviewedFull Text
Newborn screening for inborn errors of metabolism and endocrinopathies: an update
Author / Creator:Fingerhut, Ralph ; Olgemöller, Bernhard
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Analytical and bioanalytical chemistry, 2009-03, Vol.393 (5), p.1481-1497
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ArticlesPeer ReviewedFull Text
Simple Technique for Internal Control of Real-Time Amplification Assays
Author / Creator:Burggraf, Siegfried ; Olgemoller, Bernhard
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2004-05, Vol.50 (5), p.819-825
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ArticlesPeer ReviewedFull Text
Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency
Author / Creator:Kosel, Siegfried ; Burggraf, Siegfried ; Fingerhut, Ralph ; Dorr, Helmut G ; Roscher, Adelbert A ; Olgemoller, Bernhard
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2005-02, Vol.51 (2), p.298-304
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ArticlesPeer ReviewedFull Text
Newborn Screening for Isovaleric Acidemia Using Tandem Mass Spectrometry: Data from 1.6 Million Newborns
Author / Creator:Ensenauer, Regina ; Fingerhut, Ralph ; Maier, Esther M ; Polanetz, Roman ; Olgemöller, Bernhard ; Röschinger, Wulf ; Muntau, Ania C
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2011-04, Vol.57 (4), p.623-626
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ArticlesPeer ReviewedFull Text
Hybridization Probe Genotyping of the R67X Nonsense Polymorphism in the Protein Z-Dependent Protease Inhibitor Reveals a New R67Q Mutation
Author / Creator:Burggraf, Siegfried ; Dörhöfer, Barbara ; Olgemöller, Bernhard
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2007-07, Vol.53 (7), p.1385-1387
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ArticlesPeer ReviewedFull Text
Straightforward Procedure for Internal Control of Real-Time Reverse Transcription Amplification Assays
Author / Creator:Burggraf, Siegfried ; Olgemöller, Bernhard
Publisher:Washington, DC: American Association for Clinical Chemistry
Journal title:Clinical chemistry (Baltimore, Md.), 2005-08, Vol.51 (8), p.1508-1510
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ArticlesPeer ReviewedFull Text
Tandem Mass Spectrometric Determination of Malonylcarnitine: Diagnosis and Neonatal Screening of Malonyl-CoA Decarboxylase Deficiency
Author / Creator:Santer, René ; Fingerhut, Ralph ; Lässker, Uta ; Wightman, Patrick J ; Fitzpatrick, David R ; Olgemöller, Bernhard ; Roscher, Adelbert A
Publisher:Washington, DC: American Association for Clinical Chemistry
Journal title:Clinical chemistry (Baltimore, Md.), 2003-04, Vol.49 (4), p.660-662
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ArticlesPeer ReviewedFull Text
Newborn screening for inborn errors of metabolism and endocrinopathies : an update : Diagnostic Assays
Author / Creator:FINGERHUT, Ralph ; OLGEMÖLLER, Bernhard
Publisher:Heidelberg: Springer
Journal title:Analytical and bioanalytical chemistry, 2009, Vol.393 (5), p.1481-1497
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ArticlesPeer ReviewedFull Text
Upregulation of myo -Inositol Transport Compensates for Competitive Inhibition by Glucose: An Explanation for the Inositol Paradox?
Author / Creator:Olgemöller, Bernhard ; Schwaabe, Susanne ; Schleicher, Erwin D ; Gerbitz, Klaus D
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 1993-08, Vol.42 (8), p.1119-1125
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ArticlesPeer ReviewedFull Text
Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening
Author / Creator:Fingerhut, Ralph ; Dame, Torsten ; Olgemöller, Bernhard
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2009-05, Vol.168 (5), p.553-558
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ArticlesPeer ReviewedFull Text
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
Author / Creator:Maier, Esther M. ; Liebl, Bernhard ; Röschinger, Wulf ; Nennstiel-Ratzel, Uta ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Busch, Ulrich ; Krone, Nils ; Kries, Rüdiger v. ; Roscher, Adelbert A.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-05, Vol.25 (5), p.443-452
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ArticlesPeer ReviewedFull Text
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Author / Creator:Stadler, Sonja C. ; Polanetz, Roman ; Maier, Esther M. ; Heidenreich, Sylvia C. ; Niederer, Birgit ; Mayerhofer, Peter U. ; Lagler, Florian ; Koch, Hans-Georg ; Santer, René ; Fletcher, Janice M. ; Ranieri, Enzo ; Das, Anibh M. ; Spiekerkötter, Ute ; Schwab, Karl O. ; Pötzsch, Simone ; Marquardt, Iris ; Hennermann, Julia B. ; Knerr, Ina ; Mercimek-Mahmutoglu, Saadet ; Kohlschmidt, Nicolai ; Liebl, Bernhard ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Muntau, Ania C. ; Roscher, Adelbert A. ; Röschinger, Wulf
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-08, Vol.27 (8), p.748-759
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ArticlesPeer ReviewedFull Text
Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases
Author / Creator:R schinger, Wulf ; Olgem ller, Bernhard ; Fingerhut, Ralph ; Liebl, Bernhard ; Roscher, Adelbert A.
Publisher:Germany: Springer Nature B.V
Journal title:European journal of pediatrics, 2003-12, Vol.162, p.S67-S76
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ArticlesPeer ReviewedFull Text
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: ACADM MUTATIONS AND NEWBORN SCREENING
Author / Creator:Maier, Esther M. ; Liebl, Bernhard ; Röschinger, Wulf ; Nennstiel-Ratzel, Uta ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Busch, Ulrich ; Krone, Nils ; Kries, Rüdiger v. ; Roscher, Adelbert A.
Journal title:Human mutation, 2005-05, Vol.25 (5), p.443-452
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ArticlesPeer ReviewedFull Text
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment
Author / Creator:Stadler, Sonja C. ; Polanetz, Roman ; Maier, Esther M. ; Heidenreich, Sylvia C. ; Niederer, Birgit ; Mayerhofer, Peter U. ; Lagler, Florian ; Koch, Hans-Georg ; Santer, René ; Fletcher, Janice M. ; Ranieri, Enzo ; Das, Anibh M. ; Spiekerkötter, Ute ; Schwab, Karl O. ; Pötzsch, Simone ; Marquardt, Iris ; Hennermann, Julia B. ; Knerr, Ina ; Mercimek-Mahmutoglu, Saadet ; Kohlschmidt, Nicolai ; Liebl, Bernhard ; Fingerhut, Ralph ; Olgemöller, Bernhard ; Muntau, Ania C. ; Roscher, Adelbert A. ; Röschinger, Wulf
Journal title:Human mutation, 2006-08, Vol.27 (8), p.748-759
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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

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Newborn screening for inborn errors of metabolism and endocrinopathies: an update

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Simple Technique for Internal Control of Real-Time Amplification Assays

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Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency

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Newborn Screening for Isovaleric Acidemia Using Tandem Mass Spectrometry: Data from 1.6 Million Newborns

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Hybridization Probe Genotyping of the R67X Nonsense Polymorphism in the Protein Z-Dependent Protease Inhibitor Reveals a New R67Q Mutation

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Straightforward Procedure for Internal Control of Real-Time Reverse Transcription Amplification Assays

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Tandem Mass Spectrometric Determination of Malonylcarnitine: Diagnosis and Neonatal Screening of Malonyl-CoA Decarboxylase Deficiency

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Newborn screening for inborn errors of metabolism and endocrinopathies : an update : Diagnostic Assays

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Upregulation of myo -Inositol Transport Compensates for Competitive Inhibition by Glucose: An Explanation for the Inositol Paradox?

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Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening

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

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

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

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Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: ACADM MUTATIONS AND NEWBORN SCREENING

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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment

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