Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders-Reference-Cited by-同舟云学术

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders

Published:2022-07-14 Issue:12 Volume:64 Page:1539-1546
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Develop Med Child Neuro

Author:

Papandreou Apostolos¹²³^ORCID,Doykov Ivan¹^ORCID,Spiewak Justyna¹,Komarov Nikita¹,Habermann Stephanie³,Kurian Manju A.²³^ORCID,Mills Philippa B.¹^ORCID,Mills Kevin¹^ORCID,Gissen Paul¹⁴^ORCID,Heywood Wendy E.¹^ORCID,

Affiliation:

1. Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, Great Ormond Street Institute of Child Health University College London London UK

2. Molecular Neurosciences, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health University College London London UK

3. Department of Neurology, Great Ormond Street Hospital for Children London UK

4. Department of Metabolic Medicine, Great Ormond Street Hospital for Children London UK

Funder

Actelion Pharmaceuticals

Action Medical Research

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15334

Reference34 articles.

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2. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

3. Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

4. Study of Intraventricular Cerliponase Alfa for CLN2 Disease

5. Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

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