Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
Authors (first, second and last of 8)
Volume 8, issue 1, December 2013
199 articles in this issue
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Experimental designs for small randomised clinical trials: an algorithm for choice
Authors (first, second and last of 17)
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Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Authors (first, second and last of 6)
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Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
Authors (first, second and last of 10)
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Immune response profiling identifies autoantibodies specific to Moyamoya patients
Authors (first, second and last of 7)
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SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe
Authors (first, second and last of 7)
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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Authors (first, second and last of 7)
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Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
Authors (first, second and last of 8)
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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
Authors (first, second and last of 19)
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Assessment and management of pulmonary alveolar proteinosis in a reference center
Authors (first, second and last of 15)
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Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany
Authors (first, second and last of 10)
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Clinical pathways for inborn errors of metabolism: warranted and feasible
Authors (first, second and last of 10)
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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Authors (first, second and last of 14)
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Authors (first, second and last of 9)
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A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin
Authors (first, second and last of 9)
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Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics
Authors (first, second and last of 11)
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Cost of illness and economic burden of chronic lymphocytic leukemia
Authors (first, second and last of 6)
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Guideline of transthyretin-related hereditary amyloidosis for clinicians
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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Authors (first, second and last of 8)
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Cost-effectiveness of enzyme replacement therapy for Fabry disease
Authors (first, second and last of 4)
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Family burden in inherited ichthyosis: creation of a specific questionnaire
Authors (first, second and last of 6)
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New clinical and molecular insights on Barth syndrome
Authors (first, second and last of 12)
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Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
Authors (first, second and last of 15)
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Can network biology unravel the aetiology of congenital hyperinsulinism?
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Authors (first, second and last of 12)
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Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Authors (first, second and last of 14)
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Neuro-Behçet’s disease in childhood: A focus on the neuro-ophthalmological features
Authors (first, second and last of 6)
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Passive transfer of collagen XVII-specific antibodies induces sustained blistering disease in adult mice
Authors (first, second and last of 12)
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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
Authors (first, second and last of 8)
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Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Authors (first, second and last of 4)
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Disease and patient characteristics in NP-C patients: findings from an international disease registry
Authors (first, second and last of 8)
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Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines
Authors (first, second and last of 11)
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MicroRNAs at the human 14q32 locus have prognostic significance in osteosarcoma
Authors (first, second and last of 7)
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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Authors (first, second and last of 30)
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Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
Authors (first, second and last of 6)
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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Authors (first, second and last of 12)
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A diverse array of genetic factors contribute to the pathogenesis of Systemic Lupus Erythematosus
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Authors (first, second and last of 9)
