Found: 190
Select item for more details and to access through your institution.
Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1.
- Published in:
- 2017
- By:
- Publication type:
- letter
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
- Published in:
- 2017
- By:
- Publication type:
- case study
Down-regulation of miR-9* in the peripheral leukocytes of Huntington's disease patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
KBG syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
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.
- Published in:
- 2017
- By:
- Publication type:
- letter
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel mutation of HOXA11 in a patient with septate uterus.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Health-related quality of life among adults with diverse rare disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
- By:
- Publication type:
- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Abstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients.
- Published in:
- 2017
- Publication type:
- Abstract
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children.
- Published in:
- 2017
- By:
- Publication type:
- case study
Mortality in patients with Sanfilippo syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cognitive impairment profile in adult patients with Niemann pick type C disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
- Published in:
- 2017
- By:
- Publication type:
- journal article
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Unmet clinical needs and burden in Angelman syndrome: a review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The complete European guidelines on phenylketonuria: diagnosis and treatment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome.
- Published in:
- 2017
- By:
- Publication type:
- letter
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
- Published in:
- 2017
- By:
- Publication type:
- case study
Fabry disease and incidence of cancer.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence of Amyloidosis in Korea.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs.
- Published in:
- 2017
- By:
- Publication type:
- journal article
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.
- Published in:
- 2017
- By:
- Publication type:
- journal article