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Survey on the management of Pompe disease in routine clinical practice in Spain
Survey on the management of Pompe disease in routine clinical practice in Spain
Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage ...
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are au...
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current gl...
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early lif...
Diagnostic delay of myositis: an integrated systematic review
Diagnostic delay of myositis: an integrated systematic review
Idiopathic inflammatory myopathies (IIM) are a heterogenous group of rare muscular autoimmune diseases characterised by sk...
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable...
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best pr...
Fetal umbilical artery thrombosis: prenatal diagnosis, treatment and follow-up
Fetal umbilical artery thrombosis: prenatal diagnosis, treatment and follow-up
To analyze the ultrasound imaging and clinical characteristics of fetuses with umbilical artery thrombosis (UAT), explore ...
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and ur...
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyl...
Microbiome insights into pediatric familial adenomatous polyposis
Microbiome insights into pediatric familial adenomatous polyposis
Individuals with familial adenomatous polyposis (FAP) harbor numerous polyps with inevitable early progression to colon ca...
Genetic analysis of 55 cases with fetal skeletal dysplasia
Genetic analysis of 55 cases with fetal skeletal dysplasia
Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with subs...
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa
Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and alte...
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
Studies have reported that a noncoding hexanucleotide repeat in C9ORF72, is the most common genetic cause of amyotrophic l...
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leadin...
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submu...
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (muc...
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis
To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in...