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	81
The national economic burden of rare disease in the United States in 2019	74
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis	73
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
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa	54
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?	51
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)	49
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review	49
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome	49
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
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study	46
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 diagnostic odyssey: insights from parents of children living with an undiagnosed condition	44
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases	44
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys	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
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	39
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities	38
Global epidemiology of amyloid light-chain amyloidosis	38
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update	38

Legg–Calvé–Perthes disease overview	36
French recommendations for the management of Behçet’s disease	36
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey	36
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)	35
Perfect match: mTOR inhibitors and tuberous sclerosis complex	35
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations	34
Phelan-McDermid syndrome: a classification system after 30 years of experience	34
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study	33
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry	33
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation	32
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A	32
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update	31
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results	31
Genetic testing and diagnosis of inherited retinal diseases	31
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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates	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
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines	30
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
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis	30
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression	29
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease	29
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding	28
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families	28
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety	28
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre	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
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)	27
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up	27
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	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 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes	27
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study	27
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy	27
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders	27
The genetic landscape of crystallins in congenital cataract	27
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy	26
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods	26
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
A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease	26
Study on clinical and biological characteristics of ameloblastic carcinoma	26
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)	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

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
Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate	25
Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy	24
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
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases	24
A systematic review of moral reasons on orphan drug reimbursement	23
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation	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
Nintedanib in idiopathic and secondary pleuroparenchymal fibroelastosis	23
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region	23
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease	23
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients	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
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists	23
Children with a rare congenital genetic disorder: a systematic review of parent experiences	23
Growth patterns in children with spinal muscular atrophy	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
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status	22
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)	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
National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses	22
Carer burden in rare inherited diseases: a literature review and conceptual model	21
“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	21
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm	21
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta	21
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment	21
French recommendations for the management of Takayasu’s arteritis	21
Rare disease education in Europe and beyond: time to act	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
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study	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
What role can decentralized trial designs play to improve rare disease studies?	21
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy	21
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy	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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians	21
Sanfilippo syndrome: consensus guidelines for clinical care	21
Cost-of-illness studies in rare diseases: a scoping review	20
The first European consensus on principles of management for achondroplasia	20
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome	20
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence	20
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	20
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International	20
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients	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
The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2	19
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies	19
Exome sequencing in paediatric patients with movement disorders	19
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study	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
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)	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
Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey	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
Economic burden and health related quality of life of ultra-rare Gaucher disease in China	18
Social and medical needs of rare metabolic patients: results from a MetabERN survey	18
Data silos are undermining drug development and failing rare disease patients	18
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry	18
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale	18
Sirolimus in the treatment of kaposiform lymphangiomatosis	18
The burden of illness in Lennox–Gastaut syndrome: a systematic literature review	18
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study	18
Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study	18
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
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	18
U-IMD: the first Unified European registry for inherited metabolic diseases	18
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients	18
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups	17
Fingolimod in children with Rett syndrome: the FINGORETT study	17
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts	17

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis	17
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa	17
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1	17
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey	17
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family	17
A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland	16
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)	16
Health-related quality of life of X-linked hypophosphatemia in Spain	16
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience	16
Living with a rare disease - experiences and needs in pediatric patients and their parents	16
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	16
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review	16
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency	16
Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM)	16
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review	16
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population	16
RDmap: a map for exploring rare diseases	16
Diagnostic and severity scores for Cockayne syndrome	16
Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones	16
Italian national consensus statement on management and pharmacological treatment of phenylketonuria	16
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic	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
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
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)	16
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities	16
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI	16
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
Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients	15
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant	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
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
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
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening	15
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study	15
The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study	15
Clinical features of lupus enteritis: a single-center retrospective study	15
Current status of newborn screening for Pompe disease in Japan	15
Identification of immune-infiltrated hub genes as potential biomarkers of Moyamoya disease by bioinformatics analysis	15
Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patients	15
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases	15
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder	15
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?	15
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	15
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency	15
The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases	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
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)	15
In-depth phenotyping for clinical stratification of Gaucher disease	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
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)	14
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways	14
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method	14
Assessing the value of orphan drugs using conventional cost-effectiveness analysis: Is it fit for purpose?	14
The attitude of patients with progressive ataxias towards clinical trials	14
A systematic review of case reports of hepatic actinomycosis	14
The natural history of Canavan disease: 23 new cases and comparison with patients from literature	14
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II	14
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
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
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy	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
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat	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
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
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	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
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders	14
Patients’ access to rare neuromuscular disease therapies varies across US private insurers	14
Maternal bile acid profile and subtype analysis of intrahepatic cholestasis of pregnancy	14
A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China	14
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome	14
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	14
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity	14
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia	14
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study	13
Retrospective study on growth in infants with isolated Robin sequence treated with the Tuebingen Palate Plate	13
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study	13
Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients	13
Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center	13
Congenital disorders of glycosylation (CDG): state of the art in 2022	13
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency	13
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study	13
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review	13
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia	13
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials	13
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening	13
Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa	13
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis	13
French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes	13
Health utilities and costs for neuromyelitis optica spectrum disorder	13