Orphanet Journal of Rare Diseases

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	103
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	93
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	93
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	64
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	63
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	62
Composite endpoints, including patient reported outcomes, in rare diseases	62
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	61
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	59
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	58
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	56
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	53
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	53
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	52
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	52
The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis	52
Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment	50
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	47
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	45
RaDiCo, the French national research program on rare disease cohorts	45
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	44
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	44
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	44
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	43
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia	42

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	42
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	40
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	39
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	39
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	38
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	38
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	37
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	37
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	36
Challenges and improvement needs in the care of patients with central diabetes insipidus	36
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	36
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	36
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases	35
Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population	35
Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review	34
Overweight and obesity in adult patients with phenylketonuria: a systematic review	34
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany	33
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy	33
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence	32
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome	32
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries	32
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience	31
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases	31
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study	31
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases	31
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy	31
Development of a patient journey map for people living with cervical dystonia	30
A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation	30
Updates on the role of epigenetics in familial mediterranean fever (FMF)	30
Living with a rare disease - experiences and needs in pediatric patients and their parents	30
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome	30
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients	30
Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey	30
Designing rare disease care pathways in the Republic of Ireland: a co-operative model	30
Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function	30
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy	29
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study	29
Epidemiology of Wilson disease in Germany – real-world insights from a claims data study	29
The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review	29
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study	29
Hereditary angioedema in Spain: medical care and patient journey	29
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	28
Identifying project topics and requirements in a citizen science project in rare diseases: a participative study	28
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias	28
Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia	28
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study	27
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree	27
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis	27
Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease	27
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments	26

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia	26
Sanfilippo syndrome: consensus guidelines for clinical care	26
Correction to: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation	26
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?	26
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy	26
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network	26
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease	25
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up	25
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study	25
Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review	25
Acid sphingomyelinase deficiency in France: a retrospective survival study	25
Objective measurement of oral function in adults with spinal muscular atrophy	25
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome	25
Scientific evidence based rare disease research discovery with research funding data in knowledge graph	25
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)	24
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia	24
Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)	24
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease	24
Mannose supplementation in PMM2-CDG	24
French recommendations for the management of Takayasu’s arteritis	24
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel	24
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study	23
Practices and challenges for hemophilia management under resource constraints in Thailand	23
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues	23
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review	23
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	23
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal	23
Economic burden and health-related quality of life in tenosynovial giant-cell tumour patients in Europe: an observational disease registry	23
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities	22
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan	22
Acute hepatic porphyria in Denmark; a retrospective study	22
Clinical characteristics of multicentric reticulohistiocytosis and distinguished features from rheumatoid arthritis: a single-center experience in China	22
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels	22
What is the awareness of rare diseases among medical students? A survey in Bulgaria	22
Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic	22
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis	22
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters	21
Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome	21
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota	21
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis	21
Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model	21
How does overweight affect bone mineral density and oral health in adult hypophosphatasia?– A single center experience	21
Correction to: Assessing rare diseases prevalence using literature quantification	21
Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey	21
Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Ital	20
Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory	20
Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations	20
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis	20
Preferences for coordinated care for rare diseases: discrete choice experiment	20
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review	20
Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy	20
Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome	20
Lung function in adult patients with osteogenesis imperfecta: a cohort study	20
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency	20
Treatment regimens, patient reported outcomes and health-related quality of life in children with moderate and severe hemophilia A in China: using real-world data	20
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome	19
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network	19
Clinical severity grading of NF2-related schwannomatosis	19
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus	19
On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum	19
Analysis of genomic ancestry and characterization of a new variant in MPS type VII	19
Calcium channelopathies and intellectual disability: a systematic review	19
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases	19
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms	19
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression	19
Quality of life in patients with acromegaly: a scoping review	19
Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmia	19
Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations	19
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data	18
A case report on Madelung’s disease and comprehensive review of the literature	18
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019	18
Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study	18
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review	18
Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study	18
Optimising care and follow-up of adults with achondroplasia	18
The challenges of classical galactosemia: HRQoL in pediatric and adult patients	18
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling	17
Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents	17
Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature	17
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries	17

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease	17
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting	17
Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study	17
Off-label use of medicines in South Africa: a review	17
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism	17
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient	17
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease	17
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations	17
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia	17
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients	17
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D	17
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region	17
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients	17
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms	17
Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects	17
A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy	16
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey	16
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study	16
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study	16
Alterations in brain morphology by MRI in adults with neurofibromatosis 1	16
COVID-19 in Fabry disease: a reference center prospective study	16
A Natural History Study of Timothy Syndrome	16
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition	16
Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation	16
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration	16
Status and frontiers of Fabre disease	16
Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges	16
Impact of glycogen storage disease type I on adult daily life: a survey	16
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review	16
Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications	16
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients	15
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods	15
Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington’s disease gene expansion carriers	15
Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study	15
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency	15
Health-related quality of life of X-linked hypophosphatemia in Spain	15
Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients	15
Drug-associated porphyria: a pharmacovigilance study	15
A scoping review of health literacy in rare disorders: key issues and research directions	15
Correction to: The evolution of the mitochondrial disease diagnostic odyssey	15
Increasing incidence rate of breast cancer in cystic fibrosis - relationship between pathogenesis, oncogenesis and prediction of the treatment effect in the context of worse clinical outcome and progn	15
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases	15
Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients	15
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan	15
Prevalence of hearing loss in pseudohypoparathyroidism	15
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey	15
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients	15
Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database	15
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases	15
Validating online approaches for rare disease research using latent class mixture modeling	15
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals	15
Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study	15
Clinical and genetic spectrum of GSD type 6 in Korea	15
Unlocking sociocultural and community factors for the global adoption of genomic medicine	14
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations	14
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)	14
Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective	14
A multicenter study on quality of life of the “greater patient” in congenital ichthyoses	14
Helping the medicine go down: the role of the healthcare professional in a young person’s experience of achalasia, a rare oesophageal motility disorder	14
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?	14
Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research	14
Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025	14
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review	14
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1	14
Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives	14
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases	14
Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia	14
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature	14
The Italian registry for patients with Prader–Willi syndrome	14
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis	14
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases	14
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review	14
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre	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
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective s	14
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II	14
How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis	13
A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta	13
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines	13
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation	13
Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris	13
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study	13
Patients’ access to rare neuromuscular disease therapies varies across US private insurers	13
Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden	13
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience	13
Low skeletal muscle mass as an early sign in children with fabry disease	13
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series	13
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis	13
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project	13
Multi-stakeholder sessions on major innovation topics in rare disease clinical trials	13
A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy	13
Reduced risk of recurrent pneumothorax for sirolimus therapy after surgical pleural covering of entire lung in lymphangioleiomyomatosis	13
Long-term outcome and fertility results of intraplacental choriocarcinoma: a retrospective study of 14 patients and literature review	13
Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study	13
Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations – a qualitative interview study	13