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Marc Patterson

4PUBLICATIONS

30CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Haematological tumoursMetabolic medicineNeurology and neuromuscular diseases

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Publications (4)

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|Apr 14, 2025

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Jan 12, 2024

Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant.

Marissa Cepress, Ethan Grund, Tomas Leng

|May 08, 2023

Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.

Shamima Rahman, Marc Patterson, Verena Peters

|Apr 24, 2020

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.

Marc C Patterson, William S Garver, Robert Giugliani

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Frequent Collaborators

2 joint publications

Eva Morava

1 joint publications

Sander Pajusalu

1 joint publications

Mercedes Serrano

1 joint publications

Peter Witters

1 joint publications

Anna Cechova

1 joint publications

Tomáš Honzik

1 joint publications

Andrew C Edmondson

1 joint publications

Can Ficicioglu

1 joint publications

Rita Barone

1 joint publications

Pascale De Lonlay

Frequent Collaborators

2 joint publications

Eva Morava

1 joint publications

Sander Pajusalu

1 joint publications

Mercedes Serrano

1 joint publications

Peter Witters

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