SCI时时刷

search
+
A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in main...
Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey
Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey
Compliance to highly restrictive diets is critical for children with Methylmalonic Acidemia (MMA), and their caregivers pl...
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota
Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota
Lynch syndrome (LS)-associated colorectal cancer (CRC) always ascribes to pathogenic germline mutations in mismatch repair...
Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation...
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience
Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death.&...
Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study
Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study
Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for th...
Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review
Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review
Significant advances in the treatment of transthyretin (ATTR) amyloidosis has led to an evolving understanding of the epid...
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to ...
Specific plasma metabolite profile in intestinal Behçet’s syndrome
Specific plasma metabolite profile in intestinal Behçet’s syndrome
Intestinal Behçet’s syndrome (IBS) has high morbidity and mortality rates with serious complications. However, ...
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters
Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters
There is no unified prognostic scoring system for light chain cardiac amyloidosis (AL-CA), particularly stage IIIb AL-CA. ...
An assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional studies
An assessment of burden associated with problem joints in children and adults with moderate or severe haemophilia A: analysis of the CHESS-Paediatrics and CHESS II cross-sectional studies
Clinical research has offered many definitions and fragmented perspectives of joint morbidity in haemophilia. As joint dam...
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common eti...
A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles
A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles
Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present i...
The adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience
The adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience
Hereditary angioedema (HAE) is a rare, autosomal dominant disorder causing swelling attacks in various parts of the body, ...
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines
To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn scr...
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families
Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The...
Correction to: PHARC syndrome: an overview
Correction to: PHARC syndrome: an overview
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates
Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates
Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classific...
Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study
Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study
Transient receptor potential cation channel subfamily V member 2 (TRPV2) functions as a stretch-sensitive calcium channel,...
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study
The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life...
Alström syndrome: the journey to diagnosis
Alström syndrome: the journey to diagnosis
Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptom...
Clinical severity grading of NF2-related schwannomatosis
Clinical severity grading of NF2-related schwannomatosis
NF2-related schwannomatosis (NF2) is associated with various tumors of the central and peripheral nervous system. There is...
Progression and mortality of patients with cystic fibrosis in China
Progression and mortality of patients with cystic fibrosis in China
Patients with cystic fibrosis (CF) are rare in China and differ significantly from the Caucasian populations in terms of c...
Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review
Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review
Friedreich’s ataxia (FA) is a rare genetic disorder caused by silencing of the frataxin gene (FXN), which leads to m...
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits gen...
Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis
Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated with progressive loss of motor function. Risdi...
Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome
Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome
After diagnosis of Ehlers Danlos Syndrome (EDS), it is unclear what information patients and parents need and understand a...
A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy
A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness an...
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease
The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic rec...
Two-year follow-up after drug desensitization in mucopolysaccharidosis
Two-year follow-up after drug desensitization in mucopolysaccharidosis
Mucopolysaccharidosis (MPS) type 1 S and type 2 are rare lysosomal storage disorders characterized by impaired en...
阅读更多
format_indent_increase