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	98
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience	90
Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?	88
High clinical burden of classical homocystinuria in the United States: a retrospective analysis	74
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	62
Developmental odontogenic cysts with special focus on the occurrence of multiple cysts and syndromic association: a single-centre cross-sectional study from the Czech Republic	61
Quantifying the burden of hereditary hemorrhagic telangiectasia on quality of life and psychological health: a cross-sectional study	61
Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions	61
The prognostic value of ultrasound features and parafibromin expression in parathyroid carcinoma	57
A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System	57
Medium-term outcomes after laparoscopic revision of laparoscopic Kasai portoenterostomy in patients with biliary atresia	55
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	55
Physiotherapy for epidermolysis bullosa: clinical practice guidelines	53
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity	52
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study	51
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8	51
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	50
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit	46
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease	45
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance	45
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis	44
Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis	43
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals	43
KaRhab: an international online registry for cardiac rhabdomyomas	42
Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption	41

Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome	40
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study	40
The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan	39
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1	39
Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study	38
Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research	37
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	37
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	36
Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis	36
Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases	36
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma	35
Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study	35
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis	35
Clinical and genetic spectrum of factor XII deficiency in the Han population of East China	35
Epidermolysis Bullosa in children: the central role of the pediatrician	34
Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China	33
Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study	33
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping	33
A phase 2 randomized, double-blind trial of ART-001, a selective PI3Kα inhibitor, for the treatment of slow-flow vascular malformations	33
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	32
Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus	32
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency	32
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA	32
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases	30
The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients’ perspective	30
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients	30
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions	30
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families	30
Progression and mortality of patients with cystic fibrosis in China	30
French recommendations for the management of systemic sclerosis	30
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives	30
Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA	29
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products	29
Diagnostic delay of sarcoidosis: an integrated systematic review	29
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction	29
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	29
Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks	29
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy	28
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study	28
Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature	28
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases	28
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia	27
Addressing cancer survivors’ information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type	27
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice	27
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	27
Identification of circRNA CDR1as/miR-214-3p regulatory axis in Legg-Calvé-Perthes disease	27
Genetic analysis of 55 cases with fetal skeletal dysplasia	27
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis	26
Two cases of type I sialidosis and a literature review	26
Psychological conditions of caregivers of adult subjects with Prader-Willi syndrome	26

Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone	26
Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients	26
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study	26
Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country	26
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome	25
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations	25
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study	25
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors	25
Effectiveness of a psychoeducational intervention on myositis patients’ quality of life and well-being: a randomized controlled trial	25
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review	24
Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany	24
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution	24
Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan	24
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review	24
Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK	24
Nomogram for predicting pregnancy-related relapse of myasthenia gravis	24
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease	24
A retrospective study of 18 children with subcutaneous panniculitis-like T-cell lymphoma: multidrug combination chemotherapy or immunomodulatory therapy?	24
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	24
Application of four pricing models for orphan medicines: a case study for lumasiran	24
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	24
Pharmacists are initiators in palliative care for patients with rare diseases	23
The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva	23
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome	23
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review	23
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	23
Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study	23
Randomized controlled trial data for successful new drug application for rare diseases in the United States	23
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels	23
Overview of patients’ cohorts in the French National rare disease registry	22
Real-world evidence in achondroplasia: considerations for a standardized data set	22
Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor	22
Gaps in the evidence underpinning high-risk medical devices in Europe at market entry, and potential solutions	22
Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project	22
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes	22
Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction	22
Epidemiological research on rare diseases using large-scale online search queries and reported case data	21
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability	21
Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature	21
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	21
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study	21
Exploring the methylation status of CFTR and PKIA genes as potential biomarkers for lung adenocarcinoma	21
Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States	21
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	21
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	21
Composite endpoints, including patient reported outcomes, in rare diseases	21
“The chameleon among diseases” - an explorative view of sarcoidosis and identification of the consequences for affected patients and relatives using qualitative interviews	21
Retraction Note: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing	20
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany	20
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay	20
Costs of orphan medicinal products: longitudinal analysis of expenditure in Wales	20
High rate of autonomic neuropathy in Cornelia de Lange Syndrome	20
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study	20
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease	20
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma	20
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	20
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	20
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE	19
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	19
De novo variants of IRF2BPL result in developmental epileptic disorder	19
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes	19
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	19
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta	19
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study	19
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces	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
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency	19
RaDiCo, the French national research program on rare disease cohorts	18
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
Is physical activity a future therapy for patients with Marfan syndrome?	18
Growth pattern trajectories in boys with Duchenne muscular dystrophy	18
Atypical skeletal involvement in patients with Erdheim–Chester disease: CT imaging findings	18
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials	18
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia	18
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study	18
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome	18
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods	17
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment	17
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening	17
White matter is increased in the brains of adults with neurofibromatosis 1	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
Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review	17
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study	17
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	17
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease	17
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death	17
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype	17
Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study	17
Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?	17
Fulfillment status of hypertriglyceridemia and hypofibrinogenemia in children with hemophagocytic lymphohistiocytosis and risks of multiple organ dysfunction syndrome and early mortality	17
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis	17
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults	17
Sleep disturbance in Angelman syndrome patients	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
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations	16
Refractory serositis in Gorham–Stout syndrome	16
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable	16
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network	16
Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada	16
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans	16
Consequences of rare diagnoses for education and daily life: development of an observation instrument	16
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	16
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)	16
Classification of endonasal HHT lesions using digital microscopy	16
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy	16
Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis	16
Correction: Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study	16
The socioeconomic epidemiology of inherited retinal diseases in Portugal	16
Health utilities and costs for neuromyelitis optica spectrum disorder	16
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses	16
Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies	16
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease	15
Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene	15
Diagnostic value of congenital pulmonary airway malformation volume ratio for fetal hydrops due to congenital lung malformations: a systematic review and meta-analysis	15
Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains	15
Natural history in Malan syndrome: survey of 28 adults and literature review	15
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report	15
Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians	15
C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China	15
Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study	15
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans	15
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita	15
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China	15
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT	15
Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease	15
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	15
The genetic basis of classical galactosaemia in Polish patients	15
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI	15
Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families	15
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome	15
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	15
Metabolic and immunological phenotype of rare lipomatoses: Dercum’s disease and Roch-Leri mesosomatic lipomatosis	15
Real-world clinicopathological features and outcome of thymic neuroendocrine tumors: a retrospective single-institution analysis	15
What role can decentralized trial designs play to improve rare disease studies?	15
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry	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)	15
Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population	14
Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients	14
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort	14
Cholbam® and Zellweger spectrum disorders: treatment implementation and management	14
A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years	14
Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach	14
Patients’ and parents’ experiences during wound care of epidermolysis bullosa from a dyadic perspective: a survey study	14
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	14
Dual inhibition of complement component 5 and leukotriene B4 by topical rVA576 in atopic keratoconjunctivis: TRACKER phase 1 clinical trial results	14
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	14
Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3	14
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence	14
Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex	14
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study	14
Current status and trend of clinical development of orphan drugs in China	14
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature	14
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	14
Correction to: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China	14
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population	14
Clinical, molecular and glycophenotype insights in SLC39A8-CDG	14
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance	13
Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers	13
Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome	13
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)	13
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	13
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease	13
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	13
The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis	13
Behçet’s disease in Wales: an epidemiological description of national surveillance data	13
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK	13
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	13
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study	13
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy	13
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing	13
Electrocardiographic features of children with Duchenne muscular dystrophy	13
International Undiagnosed Diseases Programs (UDPs): components and outcomes	13
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia	13
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings	13