Orphanet Journal of Rare Diseases

Article	Citations
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method	109
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience	89
Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?	86
High clinical burden of classical homocystinuria in the United States: a retrospective analysis	83
Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of g	72
Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis	59
A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System	59
KaRhab: an international online registry for cardiac rhabdomyomas	57
Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption	57
Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome	56
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study	56
Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study	54
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma	50
Clinical and genetic spectrum of factor XII deficiency in the Han population of East China	50
Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement	50
Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities	48
Epidermolysis Bullosa in children: the central role of the pediatrician	46
A phase 2 randomized, double-blind trial of ART-001, a selective PI3Kα inhibitor, for the treatment of slow-flow vascular malformations	45
Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study	45
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping	44
Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China	43
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA	42
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases	42
French recommendations for the management of systemic sclerosis	39
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions	39

The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients’ perspective	37
Progression and mortality of patients with cystic fibrosis in China	36
Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature	35
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products	35
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families	35
Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats	35
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction	35
Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks	35
Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA	35
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy	34
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases	33
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals	32
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	32
Identification of circRNA CDR1as/miR-214-3p regulatory axis in Legg-Calvé-Perthes disease	32
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study	32
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	32
The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan	32
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice	32
Genetic analysis of 55 cases with fetal skeletal dysplasia	31
Addressing cancer survivors’ information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type	31
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia	31
Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients	30
Two cases of type I sialidosis and a literature review	30
Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country	30
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a	30
Psychological conditions of caregivers of adult subjects with Prader-Willi syndrome	30
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study	30
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China	29
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone	29
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	29
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis	28
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome	28
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study	28
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1	28
A retrospective study of 18 children with subcutaneous panniculitis-like T-cell lymphoma: multidrug combination chemotherapy or immunomodulatory therapy?	27
Effectiveness of a psychoeducational intervention on myositis patients’ quality of life and well-being: a randomized controlled trial	27
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations	27
Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK	27
Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research	27
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors	27
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review	27
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study	27
Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study	27
Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany	26
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review	26
Nomogram for predicting pregnancy-related relapse of myasthenia gravis	26
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	26
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force	25
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease	25
Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cy	25

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution	25
Application of four pricing models for orphan medicines: a case study for lumasiran	25
Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan	25
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes	24
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels	24
The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva	24
Pharmacists are initiators in palliative care for patients with rare diseases	24
Out-of-pocket health expenditures in patients living with ınborn errors of metabolism	24
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome	24
Randomized controlled trial data for successful new drug application for rare diseases in the United States	24
Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study	24
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review	24
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions	24
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	24
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	24
Gaps in the evidence underpinning high-risk medical devices in Europe at market entry, and potential solutions	23
Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction	23
Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study	23
Overview of patients’ cohorts in the French National rare disease registry	23
Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project	23
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	23
Real-world evidence in achondroplasia: considerations for a standardized data set	23
Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor	23
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	23
Epidemiological research on rare diseases using large-scale online search queries and reported case data	23
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	22
Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases	22
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study	22
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability	22
A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel	22
Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review	21
Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population	21
Composite endpoints, including patient reported outcomes, in rare diseases	21
Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma	21
Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature	21
Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States	21
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	21
“The chameleon among diseases” - an explorative view of sarcoidosis and identification of the consequences for affected patients and relatives using qualitative interviews	21
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease	20
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	20
High rate of autonomic neuropathy in Cornelia de Lange Syndrome	20
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany	20
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	20
Costs of orphan medicinal products: longitudinal analysis of expenditure in Wales	20
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	20
Retraction Note: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing	20
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay	20
Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS	20
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma	20
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems	20
The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease	19
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	19
Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findings	19
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency	19
Long-term clinical efficacy of topical treatment with recombinant human nerve growth factor in neurotrophic keratopathy: a novel cure for a rare degenerative corneal disease?	19
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study	19
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes	19
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study	19
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	19
Current status of newborn screening for Pompe disease in Japan	19
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE	19
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces	19
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	19
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	19
Concordance between the schedule for the evaluation of individual quality of life-direct weighting (SEIQoL-DW) and the EuroQoL-5D (EQ-5D) measures of quality of life outcomes in adults with X-linked h	18
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome	18
De novo variants of IRF2BPL result in developmental epileptic disorder	18
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia	18
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists	18
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials	18
Is physical activity a future therapy for patients with Marfan syndrome?	18
Challenges and improvement needs in the care of patients with central diabetes insipidus	18
RaDiCo, the French national research program on rare disease cohorts	18
Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease	18
Atypical skeletal involvement in patients with Erdheim–Chester disease: CT imaging findings	18
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study	18
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta	18
Growth pattern trajectories in boys with Duchenne muscular dystrophy	18
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit	17
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective	17

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype	17
Sleep disturbance in Angelman syndrome patients	17
Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study	17
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study	17
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools	17
Diagnostic delay of sarcoidosis: an integrated systematic review	17
Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review	17
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy	17
Neurological signs, symptoms and MRI abnormalities in patients with congenital melanocytic naevi and evaluation of routine MRI-screening: systematic review and meta-analysis	17
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region	17
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods	16
Fulfillment status of hypertriglyceridemia and hypofibrinogenemia in children with hemophagocytic lymphohistiocytosis and risks of multiple organ dysfunction syndrome and early mortality	16
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease	16
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients	16
Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?	16
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital	16
Medium-term outcomes after laparoscopic revision of laparoscopic Kasai portoenterostomy in patients with biliary atresia	16
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment	16
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults	16
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update	16
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study	16
Clinical features of central nervous system involvement in patients with eosinophilic granulomatosis with polyangiitis: a retrospective cohort study in China	16
Correction to: One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria	16
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	16
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study	16
White matter is increased in the brains of adults with neurofibromatosis 1	16
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis	16
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans	15
Cost-of-illness studies in rare diseases: a scoping review	15
Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies	15
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy	15
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients	15
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)	15
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening	15
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency	15
Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center	15
Classification of endonasal HHT lesions using digital microscopy	15
The socioeconomic epidemiology of inherited retinal diseases in Portugal	15
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations	15
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses	15
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	15
Refractory serositis in Gorham–Stout syndrome	15
An international comparative analysis of public reimbursement of orphan drugs in Canadian provinces compared to European countries	15
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network	15
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8	15
Consequences of rare diagnoses for education and daily life: development of an observation instrument	15
The natural history of Canavan disease: 23 new cases and comparison with patients from literature	15
Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada	15
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases	15
Health utilities and costs for neuromyelitis optica spectrum disorder	15
Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis	15
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death	15
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)	14
The genetic basis of classical galactosaemia in Polish patients	14
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study	14
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis	14
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	14
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI	14
Diagnostic value of congenital pulmonary airway malformation volume ratio for fetal hydrops due to congenital lung malformations: a systematic review and meta-analysis	14
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry	14
Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene	14
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease	14
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable	14
C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China	14
Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians	14
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1	14
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita	14
Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study	14
Correction: Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study	14
The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review	14
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans	14
What role can decentralized trial designs play to improve rare disease studies?	14
Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families	14
Real-world clinicopathological features and outcome of thymic neuroendocrine tumors: a retrospective single-institution analysis	14
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report	13
Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease	13
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease	13
Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains	13
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China	13
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	13
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort	13
Metabolic and immunological phenotype of rare lipomatoses: Dercum’s disease and Roch-Leri mesosomatic lipomatosis	13
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives	13
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	13
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy	13
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT	13
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	13
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	13
Natural history in Malan syndrome: survey of 28 adults and literature review	13
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	13
Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment	13
New developments in the molecular treatment of ichthyosis: review of the literature	13
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome	13
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata	13
Social cognition, psychosocial development and well-being in galactosemia	12