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Publications by Karolina M. Stepien

Observational Clinical Study of 22 Adult-Onset Pompe Disease Patients Undergoing Enzyme Replacement Therapy Over 5years

Molecular Genetics and Metabolism

Molecular Biology

English

Bone Mineral Density Is Within Normal Range in Most Adult PKU Patients

Journal of Inherited Metabolic Disease

English

Acute Renal Failure, Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient

International Journal of Nephrology

English

The Challenges of a Successful Pregnancy in a Patient With Adult Refsum’s Disease Due to Phytanoyl-CoA Hydroxylase Deficiency

Internal Medicine

Molecular Biology

English

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Multidimensional Proteomics for Cell Biology

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DNA Methylation Pathways and Their Crosstalk With Histone Methylation

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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

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Dynamin, a Membrane-Remodelling GTPase

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Regulating the Regulator: Post-Translational Modification of RAS

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Trithorax Group Proteins: Switching Genes on and Keeping Them Active

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