Volume 8, issue 1, December 2013
199 articles in this issue
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Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries
Authors (first, second and last of 7)
This is part of 1 collection:
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Quantitative proteomic analysis of cultured skin fibroblast cells derived from patients with triglyceride deposit cardiomyovasculopathy
Authors (first, second and last of 7)
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Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls
Authors (first, second and last of 4)
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Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea
Authors (first, second and last of 12)
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Authors (first, second and last of 10)
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Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Authors (first, second and last of 18)
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Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective
Authors (first, second and last of 5)
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Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation
Authors (first, second and last of 16)
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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
Authors (first, second and last of 12)
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Pathways systematically associated to Hirschsprung’s disease
Authors (first, second and last of 16)
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Characteristics and management of congenital esophageal stenosis: findings from a multicenter study
Authors (first, second and last of 20)
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The effects of Eculizumab on the pathology of malignant atrophic papulosis
Authors (first, second and last of 6)
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A prospective observational study of associated anomalies in Hirschsprung’s disease
Authors (first, second and last of 20)
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Funding innovation for treatment for rare diseases: adopting a cost-based yardstick approach
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Drug development for exceptionally rare metabolic diseases: challenging but not impossible
Authors (first, second and last of 6)
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Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
Authors (first, second and last of 10)
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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
Authors (first, second and last of 21)
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Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Authors (first, second and last of 11)
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Bronchoalveolar lavage fluid cytokine profiles in neuroendocrine cell hyperplasia of infancy and follicular bronchiolitis
Authors (first, second and last of 5)
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Authors (first, second and last of 27)
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Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
Authors (first, second and last of 10)
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The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases
Authors (first, second and last of 9)
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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Authors (first, second and last of 14)
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Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood
Authors (first, second and last of 9)
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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
Authors (first, second and last of 7)
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Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
Authors (first, second and last of 6)
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Niemann-Pick disease type C symptomatology: an expert-based clinical description
Authors (first, second and last of 7)
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Erratum to: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Authors (first, second and last of 12)
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Clinical evidence for orphan medicinal products-a cause for concern?
Authors (first, second and last of 5)
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Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial
Authors (first, second and last of 10)
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The expanding spectrum of rare monogenic autoinflammatory diseases
Authors (first, second and last of 7)
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New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare® cohort
Authors (first, second and last of 16)
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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Authors (first, second and last of 13)
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Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
Authors (first, second and last of 7)
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Development and validation of COMPASS: clinical evidence of orphan medicinal products – an assessment tool
Authors (first, second and last of 4)
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Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Authors (first, second and last of 17)
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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Authors (first, second and last of 10)
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Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Authors (first, second and last of 18)
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