Orphanet Journal of Rare Diseases

Article	Citations
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	124
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	108
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	77
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	77
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	70
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	68
Composite endpoints, including patient reported outcomes, in rare diseases	65
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	60
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	59
The burden of illness in Prader-Willi syndrome: a systematic literature review	58
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	56
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	56
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	53
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	52
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	50
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	49
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	49
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	49
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia	48
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	48
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	44
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	44
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	44
Challenges and improvement needs in the care of patients with central diabetes insipidus	44
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	43

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	42
RaDiCo, the French national research program on rare disease cohorts	41
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	41
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	40
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	39
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	39
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	39
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	37
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	37
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	37
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	37
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	37
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	36
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome	36
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	36
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	36
Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series	35
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	35
Epidemiology of Wilson disease in Germany – real-world insights from a claims data study	35
Sanfilippo syndrome: consensus guidelines for clinical care	35
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients	35
Acid sphingomyelinase deficiency in France: a retrospective survival study	34
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study	34
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis	33
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments	33
Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey	33
A father’s crusade in rare disease drug development: a case study of Elpida therapeutics and Melpida	32
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study	32
Distribution of perivascular spaces distribution and relate to the clinical features of SCA3	32
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study	32
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases	31
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias	31
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome	31
Identifying project topics and requirements in a citizen science project in rare diseases: a participative study	29
Hereditary angioedema in Spain: medical care and patient journey	29
Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia	29
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree	28
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia	28
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany	28
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?	28
Overweight and obesity in adult patients with phenylketonuria: a systematic review	28
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel	27
Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population	27
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases	27
Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report	27
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia	27
Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease	27
Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)	27
Objective measurement of oral function in adults with spinal muscular atrophy	27
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study	26

Scientific evidence based rare disease research discovery with research funding data in knowledge graph	26
Updates on the role of epigenetics in familial mediterranean fever (FMF)	26
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy	26
Living with a rare disease - experiences and needs in pediatric patients and their parents	26
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study	26
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy	26
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany	25
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy	25
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries	25
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up	25
Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function	25
Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review	25
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence	25
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome	24
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases	24
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience	24
Development of a patient journey map for people living with cervical dystonia	24
Designing rare disease care pathways in the Republic of Ireland: a co-operative model	24
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease	23
Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review	23
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease	23
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network	23
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation	22
Analysis of genomic ancestry and characterization of a new variant in MPS type VII	22
Practices and challenges for hemophilia management under resource constraints in Thailand	22
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review	22
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)	22
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues	22
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus	21
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis	21
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases	21
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal	21
Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmia	21
Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol	21
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome	20
Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations	20
Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory	20
Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations	20
Treatment regimens, patient reported outcomes and health-related quality of life in children with moderate and severe hemophilia A in China: using real-world data	20
Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome	20
Preferences for coordinated care for rare diseases: discrete choice experiment	20
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency	20
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey	19
Acute hepatic porphyria in Denmark; a retrospective study	19
Clinical severity grading of NF2-related schwannomatosis	19
Clinical characteristics of multicentric reticulohistiocytosis and distinguished features from rheumatoid arthritis: a single-center experience in China	19
Optimising care and follow-up of adults with achondroplasia	19
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	19
Patient experience with pulmonary hypertension in Spain	19
Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model	19
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms	19
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota	19
On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum	19
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review	18
Caregivers’ experiences and challenges of the diagnostic odyssey in Dravet syndrome	18
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels	18
How does overweight affect bone mineral density and oral health in adult hypophosphatasia?– A single center experience	18
Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome	18
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters	18
Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study	18
Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic	18
Increased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort	18
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis	17
What is the awareness of rare diseases among medical students? A survey in Bulgaria	17
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan	17
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease	17
A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease	17
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study	17
Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy	17
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network	17
Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects	17
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling	17
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations	17
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries	17
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries	17
Quality of life in patients with acromegaly: a scoping review	17
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression	17
Lung function in adult patients with osteogenesis imperfecta: a cohort study	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
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases	17

SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world	16
Clinicopathological features, treatment outcomes, and prognostic factors of angiosarcoma: a 21-year experience at one center	16
Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature	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
Nutritional status and metabolic alterations in patients with ataxia-telangiectasia	16
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency	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
Imprinting disorders as a window to understand pediatric feeding disorders	16
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)	16
Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation	16
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients	16
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients	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
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review	16
Alterations in brain morphology by MRI in adults with neurofibromatosis 1	16
Status and frontiers of Fabre disease	16
Off-label use of medicines in South Africa: a review	16
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review	16
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey	16
COVID-19 in Fabry disease: a reference center prospective study	16
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review	16
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region	15
A case report on Madelung’s disease and comprehensive review of the literature	15
Health-related quality of life of X-linked hypophosphatemia in Spain	15
Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents	15
A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy	15
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia	15
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism	15
The challenges of classical galactosemia: HRQoL in pediatric and adult patients	15
Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study	15
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review	15
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases	15
Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)	15
Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients	15
A Natural History Study of Timothy Syndrome	15
Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges	15
Analysis of Incentive Policies and Initiatives on Orphan Drug Development in China: Challenges, Reforms and Implications	15
Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database	14
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration	14
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project	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
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis	14
Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients	14
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting	14
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition	14
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	14
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients	14
A scoping review of health literacy in rare disorders: key issues and research directions	14
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective s	14
Prevalence of hearing loss in pseudohypoparathyroidism	14
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan	14
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms	14
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019	14
Correction to: The evolution of the mitochondrial disease diagnostic odyssey	14
A multicenter study on quality of life of the “greater patient” in congenital ichthyoses	14
Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia	14
Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025	14
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods	14
Unlocking sociocultural and community factors for the global adoption of genomic medicine	14
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study	14
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations	13
Exercise capacity in RYR1-related myopathies	13
Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research	13
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines	13
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review	13
XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia	13
Drug-associated porphyria: a pharmacovigilance study	13
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant	13
Gastrointestinal Kohlmeier–Degos disease: a narrative review	13
Clinical and genetic spectrum of GSD type 6 in Korea	13
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II	13
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease	13
The Italian registry for patients with Prader–Willi syndrome	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
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?	13
Reduced risk of recurrent pneumothorax for sirolimus therapy after surgical pleural covering of entire lung in lymphangioleiomyomatosis	13
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review	13
Patient involvement in clinical trials: a paradigm shift in research	13
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases	13
How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis	13
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases	13
Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives	13
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature	13
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals	13
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre	13
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity	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
Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective	13
In-depth phenotyping for clinical stratification of Gaucher disease	13
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey	13
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes	13
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)	13
Genotype-phenotype associations in microtia: a systematic review	13
Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study	13