Orphanet Journal of Rare Diseases

Article	Citations
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years	97
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations	78
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis	73
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence	66
The national economic burden of rare disease in the United States in 2019	63
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments	60
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision	55
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app	54
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?	51
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review	49
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa	48
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome	48
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)	48
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	47
French recommendations for the management of systemic sclerosis	46
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems	44
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys	43
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study	43
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled	43
Calcium channelopathies and intellectual disability: a systematic review	42
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases	38
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update	38
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities	38
Global epidemiology of amyloid light-chain amyloidosis	38
French recommendations for the management of Behçet’s disease	36

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition	36
Perfect match: mTOR inhibitors and tuberous sclerosis complex	35
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	35
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)	35
Phelan-McDermid syndrome: a classification system after 30 years of experience	34
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey	34
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study	33
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China	33
Legg–Calvé–Perthes disease overview	33
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A	32
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations	32
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results	31
Genetic testing and diagnosis of inherited retinal diseases	31
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement	30
The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis	30
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines	30
Rare disease awareness and perspectives of physicians in China: a questionnaire-based study	30
New developments in the molecular treatment of ichthyosis: review of the literature	30
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis	30
How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study	30
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients	29
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update	29
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation	29
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease	29
Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT	29
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety	28
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry	28
A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic	28
Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF	28
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre	28
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding	28
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates	28
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression	27
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders	27
Diagnostic delays in vasculitis and factors associated with time to diagnosis	27
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study	27
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	27
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy	27
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)	27
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study	27
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review	26
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus	26
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods	26
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy	26
The genetic landscape of crystallins in congenital cataract	26
A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease	26
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis	26
Study on clinical and biological characteristics of ameloblastic carcinoma	26
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	25
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	25

Initial predictors for short-term prognosis in anti-melanoma differentiation-associated protein-5 positive patients	25
Epidemiological investigation of hemophagocytic lymphohistiocytosis in China	25
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
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families	25
Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate	25
Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature	24
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data	24
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results	24
Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy	24
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region	23
Growth patterns in children with spinal muscular atrophy	23
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists	23
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy	23
Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences	23
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	23
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease	23
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up	23
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation	23
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients	23
Nintedanib in idiopathic and secondary pleuroparenchymal fibroelastosis	23
Correlation of retinal and choroidal microvascular impairment in systemic sclerosis	22
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort	22
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases	22
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status	22
National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses	22
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study	22
Pediatric joint hypermobility: a diagnostic framework and narrative review	22
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement	22
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm	21
Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials	21
Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)	21
Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys	21
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta	21
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study	21
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment	21
What role can decentralized trial designs play to improve rare disease studies?	21
Rare disease education in Europe and beyond: time to act	21
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy	21
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)	21
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians	21
French recommendations for the management of Takayasu’s arteritis	21
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy	21
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns	21
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	20
The first European consensus on principles of management for achondroplasia	20
Cost-of-illness studies in rare diseases: a scoping review	20
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	20
Assessing rare diseases prevalence using literature quantification	20
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases	20
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome	20
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International	20
A systematic review of moral reasons on orphan drug reimbursement	20
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients	20
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study	19
The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2	19
Sanfilippo syndrome: consensus guidelines for clinical care	19
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence	19
“I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA	19
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	19
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	19
Children with a rare congenital genetic disorder: a systematic review of parent experiences	19
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	19
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies	19
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)	19
Exome sequencing in paediatric patients with movement disorders	19
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans	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
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research	18
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study	18
Data silos are undermining drug development and failing rare disease patients	18
U-IMD: the first Unified European registry for inherited metabolic diseases	18
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale	18
Sirolimus in the treatment of kaposiform lymphangiomatosis	18
Social and medical needs of rare metabolic patients: results from a MetabERN survey	18
Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey	18
Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study	18
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)	18
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients	18
Economic burden and health related quality of life of ultra-rare Gaucher disease in China	18
The burden of illness in Lennox–Gastaut syndrome: a systematic literature review	18

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	18
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry	18
Fingolimod in children with Rett syndrome: the FINGORETT study	17
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study	17
Challenging behavior in mucopolysaccharidoses types I–III and day-to-day coping strategies: a cross sectional explorative study	17
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants	17
The adult phenotype of Schaaf-Yang syndrome	17
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups	17
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family	17
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts	17
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1	17
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities	16
Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature	16
A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland	16
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England	16
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study	16
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	16
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience	16
Italian national consensus statement on management and pharmacological treatment of phenylketonuria	16
Health-related quality of life of X-linked hypophosphatemia in Spain	16
Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM)	16
Revesz syndrome revisited	16
Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones	16
RDmap: a map for exploring rare diseases	16
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review	16
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic	16
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population	16
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)	16
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI	16
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency	16
Identification of immune-infiltrated hub genes as potential biomarkers of Moyamoya disease by bioinformatics analysis	15
In-depth phenotyping for clinical stratification of Gaucher disease	15
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases	15
Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study	15
Development of models of care coordination for rare conditions: a qualitative study	15
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening	15
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	15
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)	15
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases	15
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)	15
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)	15
Prevalence of extramammary Paget’s disease in urban China: a population-based study	15
HTA decision-making for drugs for rare diseases: comparison of processes across countries	15
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis	15
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency	15
Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients	15
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study	15
Living with a rare disease - experiences and needs in pediatric patients and their parents	15
Diagnostic and severity scores for Cockayne syndrome	15
Current status of newborn screening for Pompe disease in Japan	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	15
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
Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patients	15
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?	15
The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study	15
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant	15
The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases	15
Clinical features of lupus enteritis: a single-center retrospective study	15
Eight months follow-up of corneal nerves and sensitivity after treatment with cenegermin for neurotrophic keratopathy	15
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives	15
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome	14
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)	14
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial	14
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital	14
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method	14
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa	14
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat	14
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, ra	14
The natural history of Canavan disease: 23 new cases and comparison with patients from literature	14
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	14
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways	14
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy	14
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up	14
Maternal bile acid profile and subtype analysis of intrahepatic cholestasis of pregnancy	14
Assessing the value of orphan drugs using conventional cost-effectiveness analysis: Is it fit for purpose?	14
Correlation of clinical signs and symptoms of Behçet’s disease with mean platelet volume (MPV) and red cell distribution width (RDW)	14
A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China	14
A systematic review of case reports of hepatic actinomycosis	14
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II	14
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	14
Patients’ access to rare neuromuscular disease therapies varies across US private insurers	14
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders	14
Carer burden in rare inherited diseases: a literature review and conceptual model	14
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey	14
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder	14
The attitude of patients with progressive ataxias towards clinical trials	14
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome	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
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity	14
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials	13
Health utilities and costs for neuromyelitis optica spectrum disorder	13
Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients	13
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia	13
Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center	13
French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes	13