| Consensus clinical management guidelines for Niemann-Pick disease type C |
31 |
| Achondroplasia: a comprehensive clinical review |
27 |
| FGF23 and its role in X-linked hypophosphatemia-related morbidity |
26 |
| Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study |
26 |
| Adenosine deaminase deficiency: a review |
26 |
| Estimating the clinical cost of drug development for orphan versus non-orphan drugs |
24 |
| Acid ceramidase deficiency: Farber disease and SMA-PME |
21 |
| TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study |
20 |
| Patient reported outcome measures in rare diseases: a narrative review |
20 |
| Alpha-1 antitrypsin deficiency: outstanding questions and future directions |
19 |
| The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data |
19 |
| Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
18 |
| Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, XXX and XYY syndrome: a nationwide cohort study |
18 |
| Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan |
17 |
| European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT) |
17 |
| Congenital myasthenic syndromes |
17 |
| Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia |
16 |
| Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies |
16 |
| Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study |
15 |
| Miglustat in Niemann-Pick disease type C patients: a review |
14 |
| Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect |
14 |
| Genome sequencing and implications for rare disorders |
14 |
| Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study |
13 |
| Disease progression in women with X-linked adrenoleukodystrophy is slow |
13 |
| Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy |
13 |
| Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract |
13 |
| The natural history of classic galactosemia: lessons from the GalNet registry |
13 |
| SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
13 |
| Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial |
12 |
| Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm |
12 |
| Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance |
12 |
| Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study |
12 |
| Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins) |
12 |
| Comparing access to orphan medicinal products in Europe |
12 |
| What's new in pontocerebellar hypoplasia? An update on genes and subtypes |
11 |
| The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies |
11 |
| Recommendations for the design of small population clinical trials |
11 |
| A systematic review of cognitive functioning in early treated adults with phenylketonuria |
10 |
| Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses |
9 |
| An overview of the impact of rare disease characteristics on research methodology |
9 |
| Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review |
9 |
| Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? |
9 |
| Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta |
9 |
| European principles of inhibitor management in patients with haemophilia |
9 |
| Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months |
9 |
| Epidemiology of Sanfilippo syndrome: results of a systematic literature review |
8 |
| A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life |
8 |
| Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis |
8 |
| Recent advances in methodology for clinical trials in small populations: the InSPiRe project |
8 |
| Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium |
8 |
