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Adelbert A. Roscher

Researcher at Ludwig Maximilian University of Munich

Publications -  133
Citations -  6921

Adelbert A. Roscher is an academic researcher from Ludwig Maximilian University of Munich. The author has contributed to research in topics: Gene & Peroxisome. The author has an hindex of 46, co-authored 132 publications receiving 6532 citations. Previous affiliations of Adelbert A. Roscher include Boston Children's Hospital & University of California, San Diego.

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Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

TL;DR: A good genotype-phenotype relationship is shown in patients with either the severest or the mildest mutations, and a considerable degree of divergence is observed within mutation groups of intermediate severity.
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Quantitative measurement of different ceramide species from crude cellular extracts by electrospray ionization tandem mass spectrometry (ESI-MS/MS)

TL;DR: The developed electrospray tandem mass spectrometry (ESI-MS/MS) technique is capable of quantifying different CER species from crude cellular lipid extracts and enables accurate and rapid analysis of CER from small samples without prior separation steps, thus providing a useful tool for signal transduction research.
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Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

TL;DR: Tetrahydrobiopterin responsiveness is common in patients with mild hyperphenylalaninemia phenotypes and cannot consistently be predicted on the basis of genotype, particularly in compound heterozygotes.