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Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities
The mucopolysaccharidoses are a group of rare, inherited metabolic disorders. MPS II is a X-linked recessive disease, also...
Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study
Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study
Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function ...
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor n...
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region
Although an increasing number of patients with Birt-Hogg-Dubé syndrome (BHD) are being recognized in China, clinical ...
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family
Usher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene....
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in t...
Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada
Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada
Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limite...
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seiz...
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from ...
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology
Microtia is reported to be one of the most common congenital craniofacial malformations. Due to the complex etiology and t...
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy
Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by ac...
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China
To explore the application value of hyperthermic intraperitoneal chemotherapy (HIPEC) in patients with incomplete cytoredu...
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...
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...
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