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Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia
Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia
Identification of mutations in the SERPINC1 has illuminated the intricate pathways underlying antithrombin (AT) deficiency...
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms
Ring 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. ...
A systematic review of peer support interventions to improve psychosocial functioning among cancer survivors: can findings be translated to survivors with a rare cancer living rurally?
A systematic review of peer support interventions to improve psychosocial functioning among cancer survivors: can findings be translated to survivors with a rare cancer living rurally?
This study aimed to (1) summarise research on the impact of peer support interventions aimed at improving psychosocial fun...
Clinical efficacy of efgartigimod combined with intravenous methylprednisolone in the acute phase of neuromyelitis optica spectrum disorders
Clinical efficacy of efgartigimod combined with intravenous methylprednisolone in the acute phase of neuromyelitis optica spectrum disorders
Neuromyelitis Optica Spectrum Disorders (NMOSD) comprise a group of autoimmune-mediated, inflammatory, demyelinating centr...
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to cha...
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review
Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to e...
Multi-stakeholder sessions on major innovation topics in rare disease clinical trials
Multi-stakeholder sessions on major innovation topics in rare disease clinical trials
The European Joint Programme on Rare Diseases aims to enhance the rare diseases research ecosystem by bringing together st...
Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias
Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias
Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate ...
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study
Darier disease is a genodermatosis which manifests as hyperkeratotic papules and superficial erosions mainly in seborrheic...
Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany
Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany
Lysosomal storage diseases (LSDs) can be treated with intravenous enzyme replacement therapy (ERT). ERT is being administe...
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome
To evaluate the impact of coronavirus disease 2019 (COVID-19) on polysomnographic evaluation in patients with Prader-Willi...
Quality of care for people with differences of sex development (DSD) in Germany
Quality of care for people with differences of sex development (DSD) in Germany
People with "Differences of Sex Development" (DSD) require comprehensive, specialised, and individualised medica...
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases
Aicardi syndrome is a rare epileptic encephalopathy, almost exclusively affecting girls. It was first described as a triad...
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network
The global public health burden of rare diseases has become an increasingly discussed topic, and its societal impact canno...
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)
The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases ...
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products
Suzanne Reed1, Joseph Milce1, Perrine Le Calvé1, Amina Omri1, Amal Sadou1, Bastien Vincent1, Tanya Collin-Histed2 ...
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis
Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. E...
Nomogram for predicting pregnancy-related relapse of myasthenia gravis
Nomogram for predicting pregnancy-related relapse of myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies primarily affecting the neuromuscular junction....
Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study
Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organs. However, prec...
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study
Incontinentia pigmenti (IP) is an X-linked dominant multisystemic disorder caused by pathogenic variants in the IKBKG gene...
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations
Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, ...
Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research
Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research
Rare disease (RD) management and orphan drug development in India face various hurdles regarding the implementation and ad...
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
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
Understanding quality of life (QoL) is important in diseases for which there is no cure to date, such as Huntington’...
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
Mass spectrometry-based quantitative proteomics has a demonstrated utility in increasing the diagnostic yield of mitochond...
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study
Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various somatic manifestations and cognitive impair...
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, ...
Two cases of type I sialidosis and a literature review
Two cases of type I sialidosis and a literature review
This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chin...
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree
Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this is influenced by...
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America
The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 202...
Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
The underlying pathogenesis of pemphigus vulgaris, an autoimmune skin disorder, remains incompletely understood. An integr...
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