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A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

artículo científico publicado en 2020

A cluster of Candida krusei infections in a haematological unit

artículo científico publicado en 2007

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

artículo científico publicado el 1 de enero de 1998

A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

artículo científico publicado en 1993

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

artículo científico publicado en 2018

Adaptive or maladaptive response to adenoviral adrenomedullin gene transfer is context-dependent in the heart

article

Adenoviral VEGF-A gene transfer induces angiogenesis and promotes bone formation in healing osseous tissues

artículo científico publicado en 2003

Adrenomedullin gene transfer induces neointimal apoptosis and inhibits neointimal hyperplasia in injured rat artery

article

Aetiology of posterior uveitis in a tertiary centre in Finland

artículo científico publicado en 2019

Blood culture Gram stain and clinical categorization based empirical antimicrobial therapy of bloodstream infection

artículo científico publicado en 2005

Blood culture Gram stain and simple clinical categorisation can be used to identify patients at risk for delay in appropriate antibiotic treatment

artículo científico publicado en 2008

Central Nervous System and Ocular Manifestations in Puumala Hantavirus Infection

artículo científico publicado en 2021

Central nervous system-related symptoms and findings are common in acute Puumala hantavirus infection

artículo científico publicado en 2010

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Clinical Candida krusei isolates remain susceptible during extensive exposure to antifungal drugs

artículo científico publicado en 2010

Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2

artículo científico publicado en 1992

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

artículo científico publicado en 2016

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

artículo científico publicado en 2017

Effect of first-line antifungal treatment on ocular complication risk in or yeast blood stream infection

artículo científico publicado en 2021

Elevated cerebrospinal fluid neopterin concentration is associated with disease severity in acute Puumala hantavirus infection

artículo científico publicado en 2013

Endostatin inhibits VEGF-A induced osteoclastic bone resorption in vitro

artículo científico publicado en 2006

Endostatin inhibits endochondral ossification

scholarly article by A Sipola published in January 2007

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

artículo científico publicado en 2016

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

artículo científico publicado en 2018

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

scientific article published on 25 November 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

scientific article published on 16 September 2020

Hypophyseal hemorrhage and panhypopituitarism during Puumala Virus Infection: Magnetic Resonance Imaging and detection of viral antigen in the hypophysis

artículo científico publicado en 2002

IL-2 may possess neuroprotective properties in glaucomatous optic neuropathy

artículo científico publicado en 2011

Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency

artículo científico publicado en 2017

Late-presenting vascular graft infection caused by Aspergillus in an immunocompetent patient

artículo científico publicado en 2011

Long-term hormonal follow-up after human Puumala hantavirus infection

artículo científico publicado en 2015

Major age group-specific differences in conjunctival bacteria and evolution of antimicrobial resistance revealed by laboratory data surveillance

artículo científico publicado en 2008

Minoxidil specifically decreases the expression of lysine hydroxylase in cultured human skin fibroblasts

artículo científico publicado el 1 de abril de 1992

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.

artículo científico publicado en 2017

Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma

artículo científico publicado en 2019

Plasma B-type natriuretic peptide (BNP) in acute Puumala hantavirus infection

artículo científico publicado en 2014

Prevalence, incidence and epidemiology of childhood uveitis

artículo científico publicado en 2020

Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis

scientific article published on 01 July 2019

Prospective study on ocular findings in acute Puumala hantavirus infection in hospitalised patients

artículo científico publicado en 2010

Puumala virus RNA in cerebrospinal fluid in a patient with uncomplicated nephropathia epidemica

artículo científico publicado en 2007

Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies

artículo científico publicado en 2016

Signs of general inflammation and kidney function are associated with the ocular features of acute Puumala hantavirus infection

artículo científico publicado en 2012

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

artículo científico publicado en 2014

Tonsillar granuloma associated with hypogammaglobulinemia

artículo científico publicado en 2020

True bacteremias caused by coagulase negative Staphylococcus are difficult to distinguish from blood culture contaminants

artículo científico publicado en 2012

Young male patients are at elevated risk of developing serious central nervous system complications during acute Puumala hantavirus infection

artículo científico publicado en 2011