Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? –a single-center cross-sectional study
Authors (first, second and last of 7)
This is part of 1 collection:
Volume 13, issue 1, December 2018
221 articles in this issue
-
-
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
Authors (first, second and last of 11)
This is part of 1 collection:
-
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Authors (first, second and last of 11)
This is part of 2 collections:
-
Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing’s syndrome
Authors (first, second and last of 4)
This is part of 1 collection:
-
Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”
Authors (first, second and last of 7)
This is part of 1 collection:
-
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Authors (first, second and last of 12)
This is part of 1 collection:
-
Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy
Authors (first, second and last of 5)
This is part of 1 collection:
-
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases
Authors (first, second and last of 7)
This is part of 1 collection:
-
Comorbidity among HHT patients and their controls in a 20 years follow-up period
Authors (first, second and last of 4)
-
Air travel and incidence of pneumothorax in lymphangioleiomyomatosis
Authors (first, second and last of 11)
This is part of 1 collection:
-
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Authors (first, second and last of 4)
This is part of 1 collection:
-
Determining the value contribution of selexipag for the treatment of pulmonary arterial hypertension (PAH) in Spain using reflective multi-criteria decision analysis (MCDA)
Authors (first, second and last of 4)
This is part of 1 collection:
-
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Authors (first, second and last of 4)
This is part of 1 collection:
-
The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Authors (first, second and last of 10)
-
Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature
Authors (first, second and last of 7)
This is part of 1 collection:
-
Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis
Authors (first, second and last of 5)
This is part of 1 collection:
-
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
Authors (first, second and last of 9)
This is part of 1 collection:
-
Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness?
Authors (first, second and last of 6)
This is part of 1 collection: -
Immune cell phenotype and functional defects in Netherton syndrome
Authors (first, second and last of 10)
This is part of 1 collection:
-
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Authors (first, second and last of 18)
This is part of 1 collection:
-
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
Authors (first, second and last of 7)
This is part of 1 collection: -
A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015
Authors (first, second and last of 5)
This is part of 1 collection:
-
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses
Authors (first, second and last of 4)
This is part of 1 collection: -
Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)
Authors (first, second and last of 7)
This is part of 1 collection:
-
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity
Authors
This is part of 1 collection:
-
Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties
Authors (first, second and last of 14)
-
Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients
Authors
This is part of 1 collection: -
Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis
Authors (first, second and last of 4)
This is part of 1 collection:
-
Fear of disease progression in carriers of the m.3243A > G mutation
Authors (first, second and last of 6)
-
Impact of biobanks on research outcomes in rare diseases: a systematic review
Authors (first, second and last of 4)
-
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
Authors (first, second and last of 12)
This is part of 1 collection:
-
Applicability and added value of novel methods to improve drug development in rare diseases
Authors (first, second and last of 18)
-
-
Inhibitor clinical burden of disease: a comparative analysis of the CHESS data
Authors (first, second and last of 5)
-
Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany
Authors
This is part of 1 collection:
-
-
Recommendations for the design of small population clinical trials
Authors (first, second and last of 8)
-
Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
Authors (first, second and last of 11)
This is part of 1 collection:
-
Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex
Authors (first, second and last of 11)
This is part of 1 collection:
-
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)
Authors
This is part of 1 collection:
-
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
Authors (first, second and last of 12)
This is part of 1 collection:
-
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood
Authors (first, second and last of 11)
This is part of 1 collection:
-
Follow-up analysis of voice quality in patients with late-onset Pompe disease
Authors
This is part of 1 collection:
-
White matter microstructural damage in early treated phenylketonuric patients
Authors (first, second and last of 9)
This is part of 1 collection:
-
Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study
Authors (first, second and last of 8)
This is part of 1 collection:
-
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
Authors (first, second and last of 22)
-
Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism
Authors (first, second and last of 10)
-
-
-
Comorbid connective tissue diseases and autoantibodies in lymphangioleiomyomatosis: a retrospective cohort study
Authors (first, second and last of 10)
This is part of 1 collection:
