Orphanet Journal of Rare Diseases

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	118
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	106
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	94
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	86
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	83
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	81
Burden of disease in adult patients with hereditary angioedema: results from a multinational survey	72
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	72
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	71
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	71
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	61
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	60
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	59
Emotion–tremor coupling in Wilson’s disease: EEG microstate C as a marker of salience network dysregulation	57
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	57
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	56
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	53
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	52
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	52
Composite endpoints, including patient reported outcomes, in rare diseases	49
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	48
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	48
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	48
A practical framework to approach the development and evaluation of patient registries for rare diseases	46
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry	46

Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	45
Novel compound heterozygous FAM20C variants cause Raine syndrome – retrospective prenatal diagnosis and literature review	45
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	45
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	41
Fatigue and pain in children with multiple osteochondromas: a cross-sectional study	40
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	39
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	39
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	38
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	38
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	37
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients	36
The burden of illness in Prader-Willi syndrome: a systematic literature review	36
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	36
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study	35
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	35
A father’s crusade in rare disease drug development: a case study of Elpida therapeutics and Melpida	34
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree	34
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome	33
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries	33
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany	33
Hereditary angioedema in Spain: medical care and patient journey	32
Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report	32
Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia	31
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study	31
Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease	31
Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients’ expectations and preferences from the prospective, non-interventional SATIS-Fab study	31
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy	31
Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series	30
Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population	30
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments	30
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia	29
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy	29
Acid sphingomyelinase deficiency in France: a retrospective survival study	29
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel	29
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers	29
Objective measurement of oral function in adults with spinal muscular atrophy	28
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study	28
Distribution of perivascular spaces distribution and relate to the clinical features of SCA3	27
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network	27
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia	27
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	27
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study	27
Epidemiology of Wilson disease in Germany – real-world insights from a claims data study	26
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients	26
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine	26
Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review	26
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?	25
Sanfilippo syndrome: consensus guidelines for clinical care	25
Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)	25
Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study	25

Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience	25
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease	24
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases	24
Living with a rare disease - experiences and needs in pediatric patients and their parents	24
Clinical features of Infantile Epileptic Spasms Syndrome: a systematic review	24
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy	24
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study	24
Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey	24
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome	24
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up	24
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage	23
Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report	23
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis	23
Identifying project topics and requirements in a citizen science project in rare diseases: a participative study	23
Orphan drug propranolol for infantile hemangioma: ten-year real-world safety data from the FAERS database	23
Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial	23
Updates on the role of epigenetics in familial mediterranean fever (FMF)	23
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome	22
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022	22
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome	22
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	22
Overweight and obesity in adult patients with phenylketonuria: a systematic review	22
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center	22
Narratives unveil knowledge and awareness-related issue, reinforcing patients’ self-identity in sickle cell disease	21
CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis	21
Lung function in adult patients with osteogenesis imperfecta: a cohort study	21
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review	21
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota	21
How does overweight affect bone mineral density and oral health in adult hypophosphatasia?– A single center experience	21
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels	21
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya	20
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters	20
Correction: Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers	20
Practices and challenges for hemophilia management under resource constraints in Thailand	20
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review	20
Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model	20
Increased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort	20
Patient experience with pulmonary hypertension in Spain	20
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues	19
Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome	19
Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic	19
Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations	19
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis	19
Acute hepatic porphyria in Denmark; a retrospective study	19
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	19
The prevalence and long-term response to calcium channel blockers in patients with pulmonary arterial hypertension and positive vasoreactivity test – results of multicenter national registry (BNP-PL)	19
Analysis of genomic ancestry and characterization of a new variant in MPS type VII	19
Management of hereditary angioedema with normal C1Inh: a series of 163 French patients	19
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency	19
Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol	19
Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations	19
Mesenchymal stromal cell infusions of umbilical cord-derived mesenchymal stromal cells in children with Recessive Dystrophic Epidermolysis Bullosa (MissionEB): a qualitative sub study of a randomised,	18
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms	18
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases	18
Casting light on the potential connection: exploring the relationship between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and Behҫet in the Druze population	18
Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study	18
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice	18
A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism	18
What is the awareness of rare diseases among medical students? A survey in Bulgaria	18
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan	18
Quality of life in patients with acromegaly: a scoping review	18
Optimising care and follow-up of adults with achondroplasia	18
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study	18
Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory	17
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data	17
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation	17
Preferences for coordinated care for rare diseases: discrete choice experiment	17
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network	17
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	17
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal	17
Clinical severity grading of NF2-related schwannomatosis	17
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	17
Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes	17
Health service access and delivery for people living with rare disorders: a scoping review	17
Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics	17
2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions	17
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey	17
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling	16
SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world	16
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations	16

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia	16
Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation	16
Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications	16
Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome	16
Off-label use of medicines in South Africa: a review	16
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients	16
The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria	16
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	16
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review	16
Caregivers’ experiences and challenges of the diagnostic odyssey in Dravet syndrome	16
Nutritional status and metabolic alterations in patients with ataxia-telangiectasia	16
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I	16
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D	16
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	16
Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents	16
A Natural History Study of Timothy Syndrome	15
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study	15
Health-related quality of life of X-linked hypophosphatemia in Spain	15
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region	15
Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges	15
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency	15
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration	15
Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease	15
Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort	15
Imprinting disorders as a window to understand pediatric feeding disorders	15
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients	15
Targeted therapy for Langerhans cell histiocytosis with maxillofacial involvement in 20 children	15
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition	15
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review	15
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey	15
The challenges of classical galactosemia: HRQoL in pediatric and adult patients	15
Symptoms and correlates of depression and anxiety in children and adolescents with juvenile idiopathic arthritis	14
Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate	14
Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)	14
A timeline of symptom onset and disease progression in CLN3 disease	14
In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis	14
Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025	14
A case report on Madelung’s disease and comprehensive review of the literature	14
Prevalence of hearing loss in pseudohypoparathyroidism	14
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease	14
A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease	14
French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice	14
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study	14
Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration	14
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review	14
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases	14
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis	14
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms	14
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases	14
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting	14
Clinicopathological features, treatment outcomes, and prognostic factors of angiosarcoma: a 21-year experience at one center	14
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review	14
Status and frontiers of Fabre disease	14
Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study	14
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease	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
An underestimated factor for therapeutic decision-making in rare diseases: parents' (un)knowledge—the example of Duchenne muscular dystrophy caregivers and non-invasive ventilation	14
Increasing access to CAR-T therapy: a case study of an academic hospital’s alternative innovation model	14
Tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions: a qualitative pre-implementation study	14
Proteomics-based approach reveals the involvement of spliceosomal components SF3B and SerpinB9 in dermatofibrosarcoma protuberans	14
European Reference Network (ERN) ReCONNET methodology for the cross-cultural adaptation of instruments for research and care in the context of rare connective tissue diseases (CROSSADAPT)	14
Exercise capacity in RYR1-related myopathies	13
Unfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an individually matched cohort study	13
Drug-associated porphyria: a pharmacovigilance study	13
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan	13
Clinical and genetic spectrum of GSD type 6 in Korea	13
XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia	13
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm	13
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity	13
Correction to: The evolution of the mitochondrial disease diagnostic odyssey	13
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature	13
Total colonic aganglionosis: a bibliometric analysis of trends and themes (1978–2024)	13
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	13
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	13
Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients	13
A single-centre retrospective study on the clinical characteristics of patients with hereditary angioedema and the therapeutic effect of lanadelumab	13
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients	13
Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study	13
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)	13
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease	13
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?	13
Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia	13
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods	13
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective s	13
How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis	13
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case–control cohort study	13
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review	13
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes	13
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study	12
Online education for rare genetic diseases: a systematic review	12
Long-term outcome and fertility results of intraplacental choriocarcinoma: a retrospective study of 14 patients and literature review	12
Rett syndrome in Ireland: a demographic study	12
Phenotypic expression of swallowing function in Niemann–Pick disease type C1	12
Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey	12
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	12