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Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center
Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyre...
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation
Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. ...
Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures
Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures
Sickle cell disease (SCD) is a chronic inherited blood disorder caused by abnormal haemoglobin production, affecting over ...
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...
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...
Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of genetic discoveries in congenital scoliosis
Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinical implications of genetic discoveries in congenital scoliosis
Compound inheritance of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases. Such cases are ca...
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...
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey
Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited e...
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subty...
Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series
Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series
We assessed long-term real-world effectiveness and safety of lomitapide in patients with homozygous familial hypercholeste...
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...
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...
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study wa...
Impact of lipodystrophy on health-related quality of life: the QuaLip study
Impact of lipodystrophy on health-related quality of life: the QuaLip study
Lipodystrophy is a rare disease characterized by loss of adipose tissue. Natural history studies have demonstrated signifi...
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL)...
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A...
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported ...
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of...
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgery
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgery
Microcirculatory dysfunction is associated with increased morbidity and mortality in cardiac surgery patients. This study ...
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porp...
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) impr...
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system mani...
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
The randomised double-blinded placebo-controlled EXIST-1–3 studies have showed everolimus effective with adverse eff...
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
For a variety of reasons, raising a child with 22q11.2DS has significant psychosocial and financial repercussions for the ...
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagn...
Using theory of change to co-create a programme theory for a telerehabilitation intervention for pain management in people with haemophilia
Using theory of change to co-create a programme theory for a telerehabilitation intervention for pain management in people with haemophilia
Improved approaches for chronic pain management are a clinical and research priority for people with haemophilia (PWH). In...
The improvement of motor symptoms in Huntington’s disease during cariprazine treatment
The improvement of motor symptoms in Huntington’s disease during cariprazine treatment
Huntington’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-mo...
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