Orphanet Journal of Rare Diseases

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

Recent advances in idiopathic bilateral vestibulopathy: a literature review

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Cardiac and autonomic function in patients with Wilson’s disease

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

An ontological foundation for ocular phenotypes and rare eye diseases

Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases

Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Cutis marmorata telangiectatica congenita: a literature review

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

Research activity and capability in the European reference network MetabERN

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis

Characteristics of Pompe disease in China: a report from the Pompe registry

Sleep disturbances in Wolfram syndrome

Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI