Bernhard Olgemöller

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Katharina Vill, Heike Kölbel, Oliver Schwartz et al. · Journal of Neuromuscular Diseases · 2019 · 189 citations · Full text

Medicine, Neurology, Pediatrics +17

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Katharina Vill, Oliver Schwartz, Astrid Blaschek et al. · Orphanet Journal of Rare Diseases · 2021 · 163 citations · Full text

Medicine, Neurology, Pediatrics +17

Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value

Bernhard Olgemöller, Adelbert A. Roscher, Bernhard Liebl et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 125 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

Ralph Fingerhut, Wulf Röschinger, Ania C. Muntau et al. · Clinical Chemistry · 2001 · 117 citations · Full text

Pharmacy, Biochemistry, Chromatographic Analysis +14

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

Esther M. Maier, Bernhard Liebl, Wulf Röschinger et al. · Human Mutation · 2005 · 111 citations

Life Sciences, Genetics, Molecular Genetics +17