Orphanet Journal of Rare Diseases

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	104
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	103
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	94
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	93
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	83
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	82
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	76
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	76
A practical framework to approach the development and evaluation of patient registries for rare diseases	75
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	68
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	67
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	66
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	65
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	59
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	57
The burden of illness in Prader-Willi syndrome: a systematic literature review	56
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	55
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	55
Composite endpoints, including patient reported outcomes, in rare diseases	51
Burden of disease in adult patients with hereditary angioedema: results from a multinational survey	50
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	50
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	49
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	48
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	47
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients	47

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	46
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	46
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	46
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	44
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	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	43
Novel compound heterozygous FAM20C variants cause Raine syndrome – retrospective prenatal diagnosis and literature review	43
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	41
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	41
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	40
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	38
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	38
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	37
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	37
A father’s crusade in rare disease drug development: a case study of Elpida therapeutics and Melpida	35
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study	35
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree	34
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy	34
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome	33
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome	32
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries	32
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases	32
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study	32
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany	32
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center	32
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?	32
Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia	32
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	32
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022	31
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy	31
Sanfilippo syndrome: consensus guidelines for clinical care	31
Hereditary angioedema in Spain: medical care and patient journey	29
Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report	29
Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial	29
Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey	29
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease	29
Updates on the role of epigenetics in familial mediterranean fever (FMF)	29
Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population	28
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments	28
Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series	28
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	27
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia	27
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel	27
Identifying project topics and requirements in a citizen science project in rare diseases: a participative study	27
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia	26
Acid sphingomyelinase deficiency in France: a retrospective survival study	26
Distribution of perivascular spaces distribution and relate to the clinical features of SCA3	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
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	26

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients	25
Overweight and obesity in adult patients with phenylketonuria: a systematic review	25
Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review	25
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis	24
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers	24
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine	24
Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease	24
Epidemiology of Wilson disease in Germany – real-world insights from a claims data study	24
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome	23
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study	23
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study	23
Objective measurement of oral function in adults with spinal muscular atrophy	23
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage	23
Clinical features of Infantile Epileptic Spasms Syndrome: a systematic review	23
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases	22
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	22
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience	22
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study	22
Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)	22
Living with a rare disease - experiences and needs in pediatric patients and their parents	22
Orphan drug propranolol for infantile hemangioma: ten-year real-world safety data from the FAERS database	22
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy	22
Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report	22
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation	21
How does overweight affect bone mineral density and oral health in adult hypophosphatasia?– A single center experience	21
A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism	21
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome	21
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases	21
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up	21
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms	21
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review	21
Narratives unveil knowledge and awareness-related issue, reinforcing patients’ self-identity in sickle cell disease	20
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	20
Clinical severity grading of NF2-related schwannomatosis	20
CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis	20
Practices and challenges for hemophilia management under resource constraints in Thailand	20
Patient experience with pulmonary hypertension in Spain	20
Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model	20
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya	20
Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory	20
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review	19
Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome	19
Management of hereditary angioedema with normal C1Inh: a series of 163 French patients	19
Increased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort	19
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues	19
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey	19
Optimising care and follow-up of adults with achondroplasia	19
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters	19
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan	19
Caregivers’ experiences and challenges of the diagnostic odyssey in Dravet syndrome	19
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency	18
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis	18
Acute hepatic porphyria in Denmark; a retrospective study	18
Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics	18
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis	18
What is the awareness of rare diseases among medical students? A survey in Bulgaria	18
Preferences for coordinated care for rare diseases: discrete choice experiment	18
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal	18
Analysis of genomic ancestry and characterization of a new variant in MPS type VII	18
Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations	18
Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations	17
2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions	17
Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic	17
Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study	17
A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease	17
Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes	17
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	17
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network	17
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data	17
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)	17
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels	17
Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome	17
Quality of life in patients with acromegaly: a scoping review	17
Lung function in adult patients with osteogenesis imperfecta: a cohort study	17
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	17
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	17
Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol	17
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study	17
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling	17
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota	17

Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region	16
Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)	16
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries	16
SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world	16
Imprinting disorders as a window to understand pediatric feeding disorders	16
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey	16
A timeline of symptom onset and disease progression in CLN3 disease	16
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients	16
Nutritional status and metabolic alterations in patients with ataxia-telangiectasia	16
Off-label use of medicines in South Africa: a review	16
The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria	16
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition	16
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review	16
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients	16
An underestimated factor for therapeutic decision-making in rare diseases: parents' (un)knowledge—the example of Duchenne muscular dystrophy caregivers and non-invasive ventilation	16
Status and frontiers of Fabre disease	16
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations	16
The challenges of classical galactosemia: HRQoL in pediatric and adult patients	15
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D	15
Symptoms and correlates of depression and anxiety in children and adolescents with juvenile idiopathic arthritis	15
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting	15
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency	15
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	15
A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy	15
Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges	15
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study	15
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms	15
Targeted therapy for Langerhans cell histiocytosis with maxillofacial involvement in 20 children	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
COVID-19 in Fabry disease: a reference center prospective study	15
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study	15
Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation	15
Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents	15
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)	15
A case report on Madelung’s disease and comprehensive review of the literature	15
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review	15
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease	15
Clinicopathological features, treatment outcomes, and prognostic factors of angiosarcoma: a 21-year experience at one center	15
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I	15
Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications	15
Health-related quality of life of X-linked hypophosphatemia in Spain	14
Increasing access to CAR-T therapy: a case study of an academic hospital’s alternative innovation model	14
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review	14
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration	14
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients	14
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review	14
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease	14
Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study	14
A Natural History Study of Timothy Syndrome	14
Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration	14
Prevalence of hearing loss in pseudohypoparathyroidism	14
French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice	14
TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia	14
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases	14
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases	14
Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort	14
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis	14
Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective	13
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes	13
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease	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
Unlocking sociocultural and community factors for the global adoption of genomic medicine	13
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases	13
Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia	13
Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives	13
Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study	13
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre	13
Higher educational attainment in Huntington disease families: evidence from the Enroll-HD study	13
Exercise capacity in RYR1-related myopathies	13
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant	13
Helping the medicine go down: the role of the healthcare professional in a young person’s experience of achalasia, a rare oesophageal motility disorder	13
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods	13
Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform	13
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)	13
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients	13
Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study	13
Clinical and genetic spectrum of GSD type 6 in Korea	13
The Italian registry for patients with Prader–Willi syndrome	13
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan	13
Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025	13
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature	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
Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study	12
The global prevalence of peripheral neuropathy following chemotherapy in cancer patients: a systematic review and meta-analysis	12
The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology	12
Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria	12
The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: results of a cross-sectional online survey	12
Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)	12
Multi-stakeholder sessions on major innovation topics in rare disease clinical trials	12
Genetic self-counselors in Tunisia: the role of health education in hemoglobinopathies prevention among high school students	12
Use of the bibliometric in rare diseases: taking Wilson disease personally	12
Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study	12
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study	12
The clinical practice and outcomes of minimally invasive surgery in primary malignant melanoma of the vagina and cervix patients: a retrospective cohort study	12