Associated Papers
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
Herrmann US et al.
Blood, 2026
Phosphate Binding in PNP Alters Transition-State Analogue Affinity and Subunit Cooperativity.
Minnow YVT et al.
Biochemistry, 2023
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG et al.
Journal of Clinical Immunology, 2023
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).
Habib Dzulkarnain SM et al.
Journal of Clinical Immunology, 2023
Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus.
Al-Mayouf SM et al.
Clinical Rheumatology, 2022
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
Al-Mayouf SM et al.
Modern Rheumatology, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
Al-Saud B et al.
Journal of Clinical Immunology, 2020
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
Hereditary transthyretin-related amyloidosis.
Finsterer J et al.
Acta Neurologica Scandinavica, 2019
Progression of transthyretin (TTR) amyloidosis in donors and recipients after domino liver transplantation-a prospective single-center cohort study.
Vollmar J et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2018
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 2018
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Grunebaum E et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
Molecular basis of inherited diseases: a structural perspective.
Steward RE et al.
Trends in Genetics : Tig, 2003
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.
Moallem HJ et al.
Clinical Immunology (orlando, Fla.), 2002
Mutations in purine nucleoside phosphorylase deficiency.
Markert ML et al.
Human Mutation, 1997