Publications by authors named "H Blessing"

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in HS homeostasis.
Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Holger Blessing

Redox Biol· December 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Holger Blessing

Genome Med· April 2022

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Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Katharina J Weiss, Wulf Röschinger, Holger Blessing, Amelie S Lotz-Havla, Katharina A Schiergens

Ann Nutr Metab· August 2021

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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C Grünert, Holger Blessing

J Inherit Metab Dis· July 2021

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Homozygous familial hypercholesterolemia with severe involvement of the aortic valve-A sibling-controlled case study on the efficacy of lipoprotein apheresis.
Matthias Galiano, Johanna Hammersen, Katja Sauerstein, Holger Blessing, Petra Rümmele

J Clin Apher· June 2020

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