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∆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...
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...
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...
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) ...
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis
Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system ...
Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
While substantial placebos have been used in herbal medicine (HM) clinical trials for rare diseases, the use and quality o...
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022
Compassionate use is a system that provides patients with expedited access to drugs which has not yet been approved, but c...
Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients
Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients
Pseudohypoparathyroidism type 1 (PHP1) is a rare disease featuring hypocalcemia and elevated PTH level. Though disturbed c...
Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis
Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis
Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, ...
Wolfram syndrome type 1: a case series
Wolfram syndrome type 1: a case series
Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune ...
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in in...
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?
The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or...
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study
Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of li...
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder t...
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the ...