Orphanet Journal of Rare Diseases

Article	Citations
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis	205
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update	111
PKU dietary handbook to accompany PKU guidelines	103
The use of machine learning in rare diseases: a scoping review	94
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years	82
Guidelines for diagnosis and management of congenital central hypoventilation syndrome	70
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies	70
ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease	69
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations	63
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis	60
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence	59
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study	59
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments	57
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision	53
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app	52
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review	46
Consensus clinical management guidelines for Alström syndrome	46
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome	44
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?	44
The national economic burden of rare disease in the United States in 2019	42
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys	42
Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-on	41
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)	41
French recommendations for the management of systemic sclerosis	39
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa	38

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled	38
Calcium channelopathies and intellectual disability: a systematic review	38
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib	34
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities	34
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis	33
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems	32
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study	32
Phelan-McDermid syndrome: a classification system after 30 years of experience	32
Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma	31
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	31
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A	29
Non-deletional alpha thalassaemia: a review	29
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study	29
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry	29
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis	29
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update	29
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations	28
French recommendations for the management of Behçet’s disease	28
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)	28
Onset features and time to diagnosis in Friedreich’s Ataxia	28
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results	28
Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey	27
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China	27
Perfect match: mTOR inhibitors and tuberous sclerosis complex	27
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre	27
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)	27
Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches	27
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases	27
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey	27
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases	27
Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF	27
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation	27
Genetic testing and diagnosis of inherited retinal diseases	27
Rare disease awareness and perspectives of physicians in China: a questionnaire-based study	26
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety	26
Legg–Calvé–Perthes disease overview	26
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement	26
A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes	25
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines	25
Global epidemiology of amyloid light-chain amyloidosis	25
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy	25
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study	25
The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis	25
Initial predictors for short-term prognosis in anti-melanoma differentiation-associated protein-5 positive patients	24
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression	24
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update	24
Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate	24
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems	24
The diagnostic odyssey: insights from parents of children living with an undiagnosed condition	24
How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study	24

The genetic landscape of crystallins in congenital cataract	24
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients	24
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation	24
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study	24
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children	24
TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases	24
A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease	23
A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic	23
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus	23
Needs assessment study of rare diseases education for nurses and nursing students in Poland	23
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data	23
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up	23
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review	23
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)	23
Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature	22
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis	22
Growth patterns in children with spinal muscular atrophy	22
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods	22
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients	22
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy	22
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists	22
Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT	21
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease	21
Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in Germany	21
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders	21
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region	21
Diagnostic delays in vasculitis and factors associated with time to diagnosis	21
Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry	21
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy	21
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding	21
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease	20
Correlation of retinal and choroidal microvascular impairment in systemic sclerosis	20
Nintedanib in idiopathic and secondary pleuroparenchymal fibroelastosis	20
French recommendations for the management of Takayasu’s arteritis	20
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group	20
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome	20
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status	20
Cyclin-dependent kinases and rare developmental disorders	20
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	20
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates	20
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study	20
Epidemiological investigation of hemophagocytic lymphohistiocytosis in China	20
New developments in the molecular treatment of ichthyosis: review of the literature	20
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy	19
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families	19
Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences	19
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta	19
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives	19
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy	19
To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases	19
Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys	18
Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)	18
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients	18
Parent–child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish–German cross-sectional study	18
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry	18
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases	18
Study on clinical and biological characteristics of ameloblastic carcinoma	18
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study	18
A systematic review of moral reasons on orphan drug reimbursement	18
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement	18
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study	17
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients	17
The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2	17
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns	17
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment	17
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians	17
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome	17
Reproductive options for families at risk of Osteogenesis Imperfecta: a review	17
Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy	17
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and f	17
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies	17
Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials	17
U-IMD: the first Unified European registry for inherited metabolic diseases	17
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data	17
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale	17
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	17
Assessing rare diseases prevalence using literature quantification	17
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies	17
Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey	17
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)	17

Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study	17
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study	17
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)	17
What role can decentralized trial designs play to improve rare disease studies?	16
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans	16
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients	16
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease	16
Clinical profiles and risk factors of 7-day and 30-day mortality among 160 pediatric patients with hemophagocytic lymphohistiocytosis	16
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic	16
Data silos are undermining drug development and failing rare disease patients	16
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts	16
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases	16
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	16
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results	16
Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature	16
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019	16
Sanfilippo syndrome: consensus guidelines for clinical care	16
Exome sequencing in paediatric patients with movement disorders	16
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups	16
Cost-of-illness studies in rare diseases: a scoping review	16
Sirolimus in the treatment of kaposiform lymphangiomatosis	16
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review	16
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	16
Challenging behavior in mucopolysaccharidoses types I–III and day-to-day coping strategies: a cross sectional explorative study	16
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)	15
The first European consensus on principles of management for achondroplasia	15
Registries for orphan drugs: generating evidence or marketing tools?	15
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)	15
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases	15
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study	15
Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis	15
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research	15
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases	15
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases	15
Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study	15
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation	15
Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study	15
Rare disease education in Europe and beyond: time to act	15
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition	15
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations	15
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants	15
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry	15
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency	15
RDmap: a map for exploring rare diseases	15
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature	14
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondropla	14
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study	14
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population	14
Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support	14
Best practice guidelines for management of spinal disorders in skeletal dysplasia	14
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence	14
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	14
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic	14
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?	14
Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases	14
Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement	14
The adult phenotype of Schaaf-Yang syndrome	14
Children with a rare congenital genetic disorder: a systematic review of parent experiences	14
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China	14
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders	14
Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM)	14
Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study	14
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)	14
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm	14
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome	14
Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones	14
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives	14
Revesz syndrome revisited	13
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1	13
Italian national consensus statement on management and pharmacological treatment of phenylketonuria	13
Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies	13
Health-related quality of life of X-linked hypophosphatemia in Spain	13
A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China	13
A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act	13
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)	13
Clinical features of lupus enteritis: a single-center retrospective study	13
National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses	13
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)	13
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI	13
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International	13
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study	13
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)	13
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family	13
Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients	13
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort	13
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics	13
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study	13
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature	13
Development of models of care coordination for rare conditions: a qualitative study	13
NeoSeq: a new method of genomic sequencing for newborn screening	13
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency	13
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy	13
Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe	13
Diagnostic and severity scores for Cockayne syndrome	13
The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases	13