Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)
Authors (first, second and last of 7)
Volume 10, issue 1, December 2015
163 articles in this issue
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Prevalence of pemphigus and pemphigoid autoantibodies in the general population
Authors (first, second and last of 13)
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Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1
Authors (first, second and last of 9)
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Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients
Authors (first, second and last of 9)
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High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Authors (first, second and last of 11)
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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires
Authors (first, second and last of 7)
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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Authors (first, second and last of 16)
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Biological parameters predictive of percent dense red blood cell decrease under hydroxyurea
Authors (first, second and last of 11)
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CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors
Authors (first, second and last of 9)
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Drug repositioning can accelerate discovery of pharmacological chaperones
Authors (first, second and last of 4)
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Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits
Authors (first, second and last of 8)
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Principles for consistent value assessment and sustainable funding of orphan drugs in Europe
Authors (first, second and last of 4)
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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Authors (first, second and last of 21)
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Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)
Authors (first, second and last of 5)
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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
Authors (first, second and last of 15)
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Prediction of survival for patients with pemphigus vulgaris and pemphigus foliaceus: a retrospective cohort study
Authors (first, second and last of 7)
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Reversible cerebral vasoconstriction syndrome following red blood cells transfusion: a case series of 7 patients
Authors (first, second and last of 5)
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act
Authors (first, second and last of 4)
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Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
Authors (first, second and last of 12)
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Phenotypic and molecular insights into CASK-related disorders in males
Authors (first, second and last of 20)
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Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
Authors (first, second and last of 6)
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Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Authors (first, second and last of 11)
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Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Authors (first, second and last of 14)
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Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Authors (first, second and last of 19)
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Familial Mediterranean fever without MEFV mutations: a case–control study
Authors (first, second and last of 6)
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Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type
Authors (first, second and last of 10)
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Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
Authors (first, second and last of 18)
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The natural history of adult pulmonary Langerhans cell histiocytosis: a prospective multicentre study
Authors (first, second and last of 12)
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The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
Authors (first, second and last of 8)
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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Authors (first, second and last of 16)
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The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies
Authors (first, second and last of 11)
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High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case–control study
Authors (first, second and last of 8)
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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Authors (first, second and last of 27)
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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Authors (first, second and last of 10)
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Clinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China
Authors (first, second and last of 11)
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
Authors (first, second and last of 9)
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A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study
Authors (first, second and last of 6)
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Bone health in phenylketonuria: a systematic review and meta-analysis
Authors (first, second and last of 6)
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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints
Authors (first, second and last of 11)
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Authors (first, second and last of 16)
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Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience
Authors (first, second and last of 13)
