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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...
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...
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...
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal dis...
Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022
Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
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...
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physica...
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, ...
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK
With the first gene therapies for haemophilia approved by the European Commission, the US Food and Drug Administration, an...
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 ...
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterize...
Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitoch...
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 ...
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