Associated Papers
Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.
Rausch J et al.
Frontiers in Immunology, 2025
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Zondag TCE et al.
Journal of Clinical Immunology, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Mukda E et al.
International Journal of Hematology, 2017
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Qian Y et al.
Pediatric Blood & Cancer, 2014
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