Research & Innovation
Publications

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

#2010

#MOLECULAR GENETICS AND METABOLISM

PMU Author
Olaf A. Bodamer

All Authors
Furhan Iqbal, Chike B Item, Maria A Vilaseca, Anil Jalan, Adolf Mühl, Maria L Couce, Ana Duat, Maria P Delgado, Joaquim Bosch, Alberto Puche, Jaume Campistol, Mercè Pineda, Olaf A. Bodamer

Journal association
MOLECULAR GENETICS AND METABOLISM

Abstract

Keywords

DEFICIENCY

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Editorial

Eunkyeong Oh, Alberto Lucchini, Peter Nydahl Personalized approaches to ICU Distress

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Paracelsus Medical University (PMU) Research & Innovation Publications

The identification of novel mutations in the...