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Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway
Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway
Hereditary hemochromatosis (HH) is an iron overload disorder and can be caused by variants in non-HFE genes in Chinese pat...
Effects of internet-based health education on patients with acute intermittent porphyria
Effects of internet-based health education on patients with acute intermittent porphyria
Acute intermittent porphyria (AIP) is a rare genetic metabolic disorder characterized by acute attacks of neurovisceral sy...
Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It af...
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome
Primary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic va...
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene
GM3 synthase deficiency (GM3SD) is an autosomal recessive disorder resulting from mutations in the ST3GAL5 gene. It is cha...
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with th...
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study
To assess the effectiveness and safety of enzyme replacement therapy (ERT) for treating Fabry disease in clinical practice...
The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement
The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement
Wild-type and hereditary transthyretin-mediated amyloidosis (ATTRwt and ATTRv amyloidosis, respectively) are progressive, ...
Expediting treatments in the 21st century: orphan drugs and accelerated approvals
Expediting treatments in the 21st century: orphan drugs and accelerated approvals
In response to activated patient communities’ catalyzation, two significant efforts by the FDA to expedite treatment...
Height prediction of individuals with osteogenesis imperfecta by machine learning
Height prediction of individuals with osteogenesis imperfecta by machine learning
Osteogenesis imperfecta (OI) is a genetic disorder characterized by low bone mass, bone fragility and short stature. There...
Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia
Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia
Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is a progressive metabolic, genetic disease with wide clinical het...
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors
Patients with neurofibromatosis type 1 (NF1) can develop plexiform neurofibromas (PN). Large tumor burden is a predictor f...
PHARC syndrome: an overview
PHARC syndrome: an overview
PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progre...
Study on the disease burden of patients with mucopolysaccharidosis type II in China
Study on the disease burden of patients with mucopolysaccharidosis type II in China
In this study, we investigated the patient population of Mucopolysaccharidosis type II (MPS II) in China, understood the b...
Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis
Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis
There are few studies assessing psychological burden and quality of life (QoL) in caregivers of pediatric patients with ne...
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (...
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. ...
Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study
Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study
Riboflavin transporter deficiency (RTD) is an inborn error of riboflavin transport causing progressive neurological sympto...
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a...
Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course
Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course
Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder that classically presents with symptoms associated with ...
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leadi...
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epide...
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the followi...
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma
To determine the clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma (uLMS). We...
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions
The NICE Highly Specialised Technology (HST) programme evaluates interventions for very rare conditions within the UK. Thi...
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to...
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients
Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progress...
Addressing cancer survivors’ information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type
Addressing cancer survivors’ information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type
Providing current, evidence-based information to cancer survivors is critical for informed decision making. People diagnos...
Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia
Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a rare disease that affects the development of the diaphragm, leading to abnormal...
Establishment of a value assessment framework for orphan medicinal products in China
Establishment of a value assessment framework for orphan medicinal products in China
This study aimed to establish a suitable value assessment framework for orphan medicinal products in China based on the mu...
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