Scoping review of the recommendations and guidance for improving the quality of rare disease registries
Authors (first, second and last of 7)
Volume 19, issue 1, December 2024
187 articles in this issue
-
-
Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in China
Authors (first, second and last of 12)
-
Clinical characteristics, radiological features and outcomes in pulmonary involvement of cryoglobulinemia
Authors (first, second and last of 6)
-
Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Authors (first, second and last of 7)
-
An algorithm to identify patients aged 0–3 with rare genetic disorders
Authors (first, second and last of 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)
Authors (first, second and last of 7)
-
A systematic literature review on the health-related quality of life and economic burden of Fabry disease
Authors (first, second and last of 6)
-
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
Authors (first, second and last of 11)
-
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Authors (first, second and last of 9)
-
Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world database
Authors
-
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Authors (first, second and last of 11)
-
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Authors (first, second and last of 9)
-
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Authors (first, second and last of 4)
-
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Authors (first, second and last of 6)
This is part of 1 collection:
-
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
Authors (first, second and last of 7)
-
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
Authors
This is part of 1 collection:
-
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Authors (first, second and last of 5)
-
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Authors (first, second and last of 10)
-
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
Authors (first, second and last of 7)
-
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
Authors (first, second and last of 8)
-
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
Authors (first, second and last of 5)
-
-
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Authors (first, second and last of 8)
-
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data
Authors (first, second and last of 8)
-
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Authors (first, second and last of 7)
-
-
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Authors (first, second and last of 12)
-
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Authors (first, second and last of 8)
-
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Authors (first, second and last of 17)
-
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Authors (first, second and last of 5)
-
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
Authors (first, second and last of 11)
-
Diagnostic delay of sarcoidosis: an integrated systematic review
Authors (first, second and last of 7)
-
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Authors (first, second and last of 12)
-
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
Authors (first, second and last of 10)
-
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
Authors (first, second and last of 9)
-
Genotype-phenotype associations in microtia: a systematic review
Authors (first, second and last of 7)
-
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Authors (first, second and last of 18)
-
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
Authors (first, second and last of 4)
-
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Authors (first, second and last of 10)
-
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Authors (first, second and last of 20)
-
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening
Authors (first, second and last of 12)
-
-
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Authors (first, second and last of 6)
-
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Authors (first, second and last of 12)
-
Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy
Authors (first, second and last of 9)
-
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Authors (first, second and last of 20)
-
Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing
Authors (first, second and last of 8)
-
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Authors (first, second and last of 4)
-
Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Authors (first, second and last of 14)
-
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Authors
