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Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013–2022
Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013–2022
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by PIG-A mutations...
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in ...
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare i...
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (&...
A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study
A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study
Lumbar puncture is challenging for patients with scoliosis. Previous ultrasound-assisted techniques for lumbar puncture us...
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease
Late-onset Pompe disease (LOPD) is mainly characterized by progressive limb-girdle muscle weakness and respiratory impairm...
Challenges for gene therapy in the financial sustainability of health systems: a scoping review
Challenges for gene therapy in the financial sustainability of health systems: a scoping review
To review the available evidence about the strategies implemented or proposed for coverage or reimbursement for currently ...
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg o...
High risk Langerhans cell histiocytosis in children: the role of salvage in improving the outcome. A single center experience
High risk Langerhans cell histiocytosis in children: the role of salvage in improving the outcome. A single center experience
In pediatric multi-system high risk organs (RO +) Langerhans cell histiocytosis (LCH), failing 1st line tre...
An international survey assessing the effects of the duration of attack-free period on health-related quality of life for patients with hereditary angioedema
An international survey assessing the effects of the duration of attack-free period on health-related quality of life for patients with hereditary angioedema
Hereditary angioedema (HAE) is characterized by unpredictable and often severe cutaneous and mucosal swelling that affects...
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding th...
Current situation of osteogenesis imperfecta in Spain: results from a Delphi study
Current situation of osteogenesis imperfecta in Spain: results from a Delphi study
Osteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an incre...
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geo...
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to del...
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases
SMARCA4, as one of the subunits of the SWI/SNF chromatin remodeling complex, drives SMARCA4-deficient tumors. Gastric SMAR...
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex hea...
Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis
Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis
This study aimed to enhance the understanding of the role of estrogen in lymphangioleiomyomatosis(LAM) and to conclude the...
Functional characterization of two DYRK1B variants causative of AOMS3
Functional characterization of two DYRK1B variants causative of AOMS3
Two new missense variants (K68Q and R252H) of the protein kinase DYRK1B were recently reported to cause a monogenetic form...
Plasma metabolomics signatures of developmental dysplasia of the hip in Tibet plateau
Plasma metabolomics signatures of developmental dysplasia of the hip in Tibet plateau
Developmental dysplasia of the hip (DDH) is a common childhood health complaint, whose etiology is multifactorial. The inc...
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historical...
Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness
Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness
The present study aimed to test the hypothesis stating that the cognitive potential of individuals with deafblindness is e...
A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy
A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy
Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes t...
Prognostic factors and nomogram for pulmonary resected high-grade neuroendocrine carcinomas: a 20-year single institutional real-world experience
Prognostic factors and nomogram for pulmonary resected high-grade neuroendocrine carcinomas: a 20-year single institutional real-world experience
Pulmonary high-grade neuroendocrine carcinomas(pHGNEC) encompassing small cell lung cancer (SCLC) and large cell neuroendo...
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role ...
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies
Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ances...
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Cu...
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) de...
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysis
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysis
This study aimed to analyze and map scientific literature on Neuroleptic Malignant Syndrome (NMS) and Serotonin Syndrome (...
Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report
Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report
Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predomin...
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on indiv...
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