Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity-Reference-Cited by-同舟云学术

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Published:2020-06-02 Issue:1 Volume:54 Page:87-97
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Kuper Willemijn F. E.¹^ORCID,Oostendorp Marlies²,van den Broek Brigitte T. A.³⁴,van Veghel Karin⁴,Nonkes Lourens J. P.²,Nieuwenhuis Edward E. S.⁵,Fuchs Sabine A.¹,Veenendaal Tineke⁶,Klumperman Judith⁶,Huisman Albert²^ORCID,Nierkens Stefan⁴,van Hasselt Peter M.¹³^ORCID

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's HospitalUniversity Medical Center Utrecht, Utrecht University Utrecht the Netherlands

2. Department of Clinical ChemistryUniversity Medical Center Utrecht Utrecht the Netherlands

3. Sylvia Toth Center for the Multidisciplinary Follow up of Lysosomal Storage DisordersUniversity Medical Center Utrecht, Utrecht University Utrecht the Netherlands

4. Laboratory of Translational ImmunologyUniversity Medical Center Utrecht, Utrecht University Utrecht the Netherlands

5. Department of GastroenterologyWilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University Utrecht the Netherlands

6. Section Cell Biology, Center for Molecular MedicineUniversity Medical Center Utrecht, Utrecht University Utrecht the Netherlands

Funder

Sylvia Toth Charity Foundation

Bartiméus Foundation

Friends of the Wilhelmina Children's Hospital Foundation

Beat Batten Foundation

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12128

Reference25 articles.

1. The neuronal ceroid-lipofuscinoses: A historical introduction

2. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

3. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

4. Timing of cognitive decline in CLN3 disease

5. Motor function impairment is an early sign of CLN3 disease

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G;Ophthalmic Genetics;2023-08-24

2. Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2;Brain Sciences;2023-01-27

3. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency;American Journal of Medical Genetics Part A;2021-05-03

4. Neurofilament light chain levels correlate with clinical measures in CLN3 disease;Genetics in Medicine;2021-04

5. Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease ( CLN3 disease);JIMD Reports;2021-01-25