Disease and patient characteristics in NP-C patients: findings from an international disease registry-Reference-Cited by-同舟云学术

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Disease and patient characteristics in NP-C patients: findings from an international disease registry

Published:2013 Issue:1 Volume:8 Page:12
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Patterson Marc C,Mengel Eugen,Wijburg Frits A,Muller Audrey,Schwierin Barbara,Drevon Harir,Vanier Marie T,Pineda Mercé

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference27 articles.

1. Recommendations on the diagnosis and management of Niemann-Pick disease type C

2. Niemann-Pick disease type C

3. The natural history of Niemann–Pick disease type C in the UK

4. Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

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1. Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series;Molecular Genetics and Metabolism Reports;2024-09

2. CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C;Molecular Biology Reports;2024-07-20

3. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

4. Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice;2024-06-08

5. Drug‐refractory epilepsy as presenting feature of Niemann–Pick disease;Neurology and Clinical Neuroscience;2024-05-21

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