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The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey
Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments th...
Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review
Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review
Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a ...
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
Type I Congenital Disorders of Glycosylation (CDG-I) are inherited diseases presenting deficits in protein N-glycosylation...
Illness cognition, illness perception and related factors in patients with lymphangioleiomyomatosis
Illness cognition, illness perception and related factors in patients with lymphangioleiomyomatosis
To explore the self-perceived illness cognition and perception status, as well as the relevant factors among lymphangiolei...
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease
The aim of our multicenter study was to investigate the safety and efficacy of enzyme replacement therapy (ERT) and chaper...
Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study
Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study
Noonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. The aim of this study ...
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas
Eccrine porocarcinoma (EPC) is a rare malignant skin tumor arising from the eccrine gland. Investigations into the genomic...
The healthcare burden of pulmonary alveolar proteinosis (PAP)
The healthcare burden of pulmonary alveolar proteinosis (PAP)
Pulmonary alveolar proteinosis (PAP) is a rare lung syndrome characterized by the accumulation of surfactant in the alveol...
Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China
Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China
To investigate the prevalence and recurrence rates of spontaneous pneumothorax (SP) in patients with diffuse cystic lung d...
Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study
Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study
Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, e...
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) disea...
Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome
Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome
Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic alkalosis and hypomagnesemia, d...
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized...
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China
Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the result...
Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis
Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis
A correlation between various sites or types of mutations in mitochondrial DNA ND3 and the development of a specific mitoc...
Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model
Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model
Hyperphenylalaninemia, a prevalent amino acid metabolism disorder, often results in cognitive impairment. Recent studies h...
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome due to bilateral ad...
XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes
XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes
People living with XLH experience a diverse range of clinical manifestations, with chronic hypophosphataemia having a detr...
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozy...
A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
The SOX5 gene has been identified as the pathogenic gene responsible for Lamb-Shaffer syndrome. In this study, we examined...
Intravenous leiomyomatosis presenting as Budd–Chiari syndrome: a case report and literature review
Intravenous leiomyomatosis presenting as Budd–Chiari syndrome: a case report and literature review
Budd–Chiari syndrome (BCS) caused by intravenous leiomyomatosis (IVL) is rare. Further reports and thorough evaluati...
Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations
Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations
Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular...
Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis
Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis
Patients with hereditary angioedema (HAE) experience recurrent, unpredictable episodes of edema. These swellings are often...
KaRhab: an international online registry for cardiac rhabdomyomas
KaRhab: an international online registry for cardiac rhabdomyomas
Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with...
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester
Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnanc...
Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China
Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China
Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, ...
Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a signif...
Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life
Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life
Achalasia is a rare esophageal motility disorder with an estimated annual incidence of 1–5/100.000 and a mean age at...
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic ...
High clinical burden of classical homocystinuria in the United States: a retrospective analysis
High clinical burden of classical homocystinuria in the United States: a retrospective analysis
Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine leve...
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