Author

Christina Guldberg

Institution: Orphazyme (Denmark)

Observed institutions: Orphazyme (Denmark), University of Kansas Medical Center, UCL Queen Square Institute of Neurology, University College London

OpenAlex ID: A5038577215

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

2021 · Marc C. Patterson, Lucy Lloyd-Price, et al. · Orphanet Journal of Rare Diseases · 42

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

2020 · Eugen Mengel, Bruno Bembi, et al. · Orphanet Journal of Rare Diseases · 27

International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

2021 · William Evans, Marc Patterson, et al. · Orphanet Journal of Rare Diseases · 21

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

2021 · Eugen Mengel, Marc C. Patterson, et al. · Orphanet Journal of Rare Diseases · 11

Study to Assess Content Validity and Interrater and Intrarater Reliability of the Inclusion Body Myositis Functional Rating Scale

2023 · Tara Symonds, Jason Randall, et al. · Neurology Clinical Practice · 8

Measurement properties of the Inclusion Body Myositis Functional Rating Scale

2024 · Sharfaraz Salam, Tara Symonds, et al. · Journal of Neurology Neurosurgery & Psychiatry · 5

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

2021 · Eugen Mengel, Bruno Bembi, et al. · Orphanet Journal of Rare Diseases · 1

Validation of a short-form 5-domain Niemann-Pick type C clinical severity scale (5-domain NPCCSS)

2021 · Marc Patterson, Lucy Lloyd-Price, et al. · Molecular Genetics and Metabolism

Impacts and burden of Niemann-Pick disease type C: A patient and caregiver perspective

2021 · Eugen Mengel, Marc Patterson, et al. · Molecular Genetics and Metabolism

Works count: 9

Citation count: 115

H-index: 5

I10-index: 4