A new framework for evaluating the health impacts of treatment for Gaucher disease type 1
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Volume 12, issue 1, December 2017
188 articles in this issue
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The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry
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Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012
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Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide
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Non-optic glioma in adults and children with neurofibromatosis 1
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Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
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Early disease progression of Hurler syndrome
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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
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Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
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Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
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Evaluation of a web-based registry of inherited bleeding disorders: a descriptive study of the Brazilian experience with HEMOVIDAweb Coagulopatias
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Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
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Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
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Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease
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Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
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Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
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High prevalence of autoimmune disease in the rare inflammatory bone disorder sternocostoclavicular hyperostosis: survey of a Dutch cohort
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Diseases associated with calcium-sensing receptor
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Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)
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Evolving prevalence of haematological malignancies in orphan designation procedures in the European Union
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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
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The burden of amyloid light chain amyloidosis on health-related quality of life
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Bibliometric analysis of literature on toxic epidermal necrolysis and Stevens-Johnson syndrome: 1940 – 2015
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Challenges in orphan drug development and regulatory policy in China
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
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Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs
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Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects
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Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules
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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
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Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency
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Moebius sequence –a multidisciplinary clinical approach
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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
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