Disease: Steinfeld syndrome
- <em>CIC de novo</em> loss of function variants contribute to cerebral folate deficiency by downregulating <em>FOLR1</em> expression
- A child with 18q- syndrome and cerebellar astrocytoma
- A preliminary study of sonographic grading of fetal intracardiac echogenic foci: feasibility, reliability and association with aneuploidy
- Abnormal distribution of aquaporin-5 water channel protein in salivary glands from Sjögren's syndrome patients
- Accurate detection of changes in disease activity in primary Sjögren's syndrome by the European League Against Rheumatism Sjögren's Syndrome Disease Activity Index
- Anhedonia in the psychosis risk syndrome: associations with social impairment and basal orbitofrontal cortical activity
- Ankylosing spondylitis with primary Sjögren's syndrome: the first two case-reports
- Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
- Aquaporins in primary Sjögren's syndrome: comment on the articles by Steinfeld et al
- Association Between Baseline Therapy and Flare Reduction in Mepolizumab-Treated Patients With Hypereosinophilic Syndrome
- Atresia of the left atrioventricular valve associated with corrected transposition of the great vessels. A cause of the Eisenmenger syndrome
- Big prolactin 60 kDa is overexpressed in salivary glandular epithelial cells from patients with Sjögren's syndrome
- Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT
- CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
- Cerebral folate deficiency: a neurometabolic syndrome?
- Characterization of disease flares and impact of mepolizumab in patients with hypereosinophilic syndrome
- Chronic eosinophilic pneumonia (CEP) as a presenting feature of Churg-Strauss syndrome (CSS)
- Chronic eosinophilic pneumonia followed by Churg-Strauss syndrome
- Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review
- Complementary and alternative medicine and musculoskeletal pain in the first year of adjuvant aromatase inhibitor treatment in early breast cancer patients
- D-mannose and N-acetylglucosamine moieties and their respective binding sites in salivary glands of Sjögren's syndrome
- Distribution and roles of aquaporins in salivary glands
- Distribution of salivary aquaporin-5 in Sjögren's syndrome
- Efficacy and safety of mepolizumab in hypereosinophilic syndrome: A phase III, randomized, placebo-controlled trial
- Efficacy of community-based second trimester genetic ultrasonography in detecting the chromosomally abnormal fetus
- Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
- Epidemic and classic Kaposi's sarcoma of the feet. A comparative study
- Epratuzumab (humanised anti-CD22 antibody) in autoimmune diseases
- Epratuzumab (humanised anti-CD22 antibody) in primary Sjögren's syndrome: an open-label phase I/II study
- EULAR Sjögren's syndrome disease activity index (ESSDAI): a user guide
- EULAR Sjogren's syndrome disease activity index: development of a consensus systemic disease activity index for primary Sjogren's syndrome
- Evaluation of clinical benefit from treatment with mepolizumab for patients with eosinophilic granulomatosis with polyangiitis
- Expression of calcium-sensing receptor in human minor salivary glands
- Failure to detect human papillomavirus in primary Sjögren's syndrome
- Fetal intracardiac echogenic foci: current understanding and clinical significance
- From DREAM to REALITI-A and beyond: Mepolizumab for the treatment of eosinophil-driven diseases
- HES and EGPA: Two Sides of the Same Coin
- Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions
- Inefficacy of infliximab in primary Sjögren's syndrome: results of the randomized, controlled Trial of Remicade in Primary Sjögren's Syndrome (TRIPSS)
- Infliximab in patients with primary Sjögren's syndrome: a pilot study
- Infliximab in primary Sjögren's syndrome: one-year followup
- Intentions and outcomes in the radiotherapeutic management of epidemic Kaposi's sarcoma
- Justification of the Subcutaneous Mepolizumab Dose of 300 mg in Eosinophilic Granulomatosis With Polyangiitis and Hypereosinophilic Syndrome
- Labeled neoglycoproteins and human lectins as diagnostic and potential functional markers in salivary glands of patients with Sjögren's syndrome
- Long-Term Clinical Outcomes of High-Dose Mepolizumab Treatment for Hypereosinophilic Syndrome
- Mechanical parameters determining pharyngeal collapsibility in patients with sleep apnea
- Mepolizumab or Placebo for Eosinophilic Granulomatosis with Polyangiitis
- Mepolizumab Reduces Hypereosinophilic Syndrome Flares Irrespective of Blood Eosinophil Count and Interleukin-5
- Mepolizumab therapy improves the most bothersome symptoms in patients with hypereosinophilic syndrome
- Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome
- Modified aquaporin 5 expression and distribution in submandibular glands from NOD mice displaying autoimmune exocrinopathy
- New approaches to the treatment of Sjögren's syndrome: soon beyond symptomatic relief?
- Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism
- Notice of retraction of two articles (“Infliximab in patients with primary Sjögren’s syndrome: a pilot study” and “Infliximab in patients with primary Sjögren’s syndrome: one-year followup”)
- Performance of the preliminary classification criteria for cryoglobulinaemic vasculitis and clinical manifestations in hepatitis C virus-unrelated cryoglobulinaemic vasculitis
- Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach
- Preliminary classification criteria for the cryoglobulinaemic vasculitis
- Prenatal diagnosis of Williams syndrome based on ultrasound signs
- Preoperative clinical symptomatology and stroke burden in pediatric moyamoya angiopathy: Defining associated risk variables
- Prevalence of Eosinophilic Granulomatosis With Polyangiitis and Associated Health Care Utilization Among Patients With Concomitant Asthma in US Commercial Claims Database
- Primary Sjögren's syndrome associated with pneumatosis cystoides coli
- Prolactin up-regulates cathepsin B and D expression in minor salivary glands of patients with Sjögren's syndrome
- Pyogenic arthritis caused by streptococcus equisimilis (group-C streptococcus) in a patient with AIDS
- Reply
- Response to a case report: Idiopathic hypereosinophilic syndrome in remission with benralizumab treatment after relapse with mepolizumab
- Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption
- Revisiting the NIH Taskforce on the Research needs of Eosinophil-Associated Diseases (RE-TREAD)
- Rheumatic manifestations due to human parvovirus B19. A report of four cases
- Safety and Efficacy of Mepolizumab in Hypereosinophilic Syndrome: An Open-Label Extension Study
- Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene
- Severe sensory neuronopathy responsive to infliximab in primary Sjögren's syndrome
- Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
- Sialic acid residues in the labial salivary glands from Sjögren's syndrome patients
- Single-molecule visualization of human BLM helicase as it acts upon double- and single-stranded DNA substrates
- Spinal cord injury with central cord syndrome from surfing
- Steinfeld syndrome: Further delineation
- Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder
- Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA
- Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
- Symptom assessment in hypereosinophilic syndrome: Toward development of a patient-reported outcomes tool
- The increasing incidence and prevalence of hypereosinophilic syndrome in the United Kingdom
- The prognostic significance of residual pigmentation following radiotherapy of epidemic Kaposi's sarcoma
- The rheumatology and physical medicine department
- The syndrome of peripheral arterial insufficiency with partial occlusion of the iliac artery; a study of nine cases
- Treatment with infliximab restores normal aquaporin 5 distribution in minor salivary glands of patients with Sjögren's syndrome
- Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
- Usefulness of mouse models to study the pathogenesis of Sjögren's syndrome
- VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community
- Vascular ring in infancy
- Very low-dose prednisolone in early rheumatoid arthritis retards radiographic progression over two years: a multicenter, double-blind, placebo-controlled trial
- Zidovudine in primary Sjögren's syndrome
