Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation
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Volume 12, issue 1, December 2017
188 articles in this issue
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Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review
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Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis
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Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1
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Down-regulation of miR-9* in the peripheral leukocytes of Huntington’s disease patients
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Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients
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Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
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Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy
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Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
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Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease
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A novel mutation of HOXA11 in a patient with septate uterus
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A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
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Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States
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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
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Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
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Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children
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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
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Cognitive impairment profile in adult patients with Niemann pick type C disease
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Unmet clinical needs and burden in Angelman syndrome: a review of the literature
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KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers
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The complete European guidelines on phenylketonuria: diagnosis and treatment
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Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood
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Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome
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Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia
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Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
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The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
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Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
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Fabry disease and incidence of cancer
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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
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Chronic pain in Gaucher disease: skeletal or neuropathic origin?
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Nuclear envelopathies: a complex LINC between nuclear envelope and pathology
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Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience
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Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis
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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
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Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs
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What can the CF registry tell us about rare CFTR-mutations? A Belgian study
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Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain
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Critical appraisal of arguments for the delayed-start design proposed as alternative to the parallel-group randomized clinical trial design in the field of rare disease
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Constipation in adults with neurofibromatosis type 1
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