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To identify magnetic resonance imaging (MRI) and clinical characteristics that are closely associated with the progression of haemophilic arthropathy (HA) after different therapies and to establish a predictio...
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder classified into clinical subtypes and genetic subtypes. Previous clinical studies have primarily focused on case reports and family analys...
Disorders of sexual development (DSDs) are a group of rare conditions with a discordance of chromosomal, gonadal, or phenotypic features of the internal and/or external genitalia, which accounts for 0.5% of th...
Use of artificial intelligence (AI) in rare diseases has grown rapidly in recent years. In this review we have outlined the most common machine-learning and deep-learning methods currently being used to classi...
Neurofibromatosis 1 (NF1) is a rare, neurogenetic disorder predisposing individuals to multiple tumors and other issues requiring expert care and regular health monitoring. We sought to assess U.S. patients’ a...
Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncert...
Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry p...
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated ...
ATAD3A, a nuclear gene encoding the ATAD3A protein, has diverse roles in mitochondrial processes, encompassing mitochondrial dynamics, mitochondrial DNA maintenance, metabolic pathways and inter-organellar intera...
Fibrosing mediastinitis is a rare benign disease frequently complicated by pulmonary hypertension. A definitive diagnosis for fibrosing mediastinitis-associated pulmonary hypertension (FM-PH) and its etiologie...
Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to subop...
VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exh...
Mitochondrial disease has been linked to mental health disorder in clinical cohorts and post-mortem studies. However, a lack of population-level studies examining the relationship between mitochondrial disease...
Treatment satisfaction can be described as the patient’s experience in patients with cystic fibrosis (CF). It can be influenced using modulators and clinical characteristics. The aims of this study were to eva...
Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by bone fragility and susceptibility to fractures. No curative treatment currently exists, and limited data are available on the effects of...
Few reports exist that focus on patients with spinal muscular atrophy (SMA) and severe spinal deformity. In this study, we aimed to report surgical outcomes and complications for SMA patients with severe scoli...
The prevalence of mitochondrial diseases is increasing, leading to a significant economic burden on families and society. However, nationwide cost data on their effects on China’s economy remain limited. This ...
Gaucher disease type 3 (GD3) is a lysosomal storage disease characterized by diverse neurological and systemic manifestations. Symptoms of ataxia, cognitive impairment, and other systemic symptoms profoundly i...
Creutzfeldt–Jakob disease (CJD) is a severe neurodegenerative disorder characterized by the abnormal accumulation of prion proteins. In Israel, a unique epidemiological pattern of CJD has been identified, spec...
Individuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provid...
Arthrogryposis multiplex congenita (AMC) is a group of rare disorders characterized by multiple joint contractures present at birth. Early rehabilitation is essential to minimize joint contractures and maximiz...
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder caused by the absence of a functional UBE3A gene, leading to developmental, behavioral, and medical challenges. Sleep disturbances, includin...
Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved. Cu...
Undifferentiated or undefined systemic autoinflammatory disease (uSAID) encompasses a group of rare, heterogeneous diseases characterized by the features of well-defined systemic autoinflammatory diseases (SAI...
Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3) is a rare inherited liver disease caused by a mutation in the ABCB4 gene, leading to dysfunction of multidrug resistance protein 3 (MDR3). The earli...
Rare neurological diseases (RNDs) result in severe health burdens worldwide. Data from China are limited. We aimed to investigate the health burden of 20 RNDs in Guangdong Province (GD), which contains two-thi...
Hypophosphatasia (HPP) is a rare inherited disorder caused by ALPL gene mutations, with fracture nonunion being a serious complication. This study investigated the effects of teriparatide and asfotase alfa (AA) o...
GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthes...
Thiamine metabolism dysfunction syndrome 5 (TMDS5) is a rare inborn error of metabolism caused by variants in TPK1, leading to reduced TPK levels. This enzyme is crucial for the production of thiamine pyrophospha...
Multiple acyl-CoA Dehydrogenation Deficiency (MADD) is a hereditary metabolic disorder affecting the metabolism of fatty acids, amino acids, and choline, typically presenting with fat accumulation and mitochon...
The aim of this study was to assess retinal microvascular parameters (RMPs) in Fabry disease (FD) using deep learning, and analyze the correlation with brain lesions related to cerebral small vessel disease (C...
The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play. B...
Studies in adults with PKU have mainly focused on the neuropsychiatric complications that may arise in individuals who are unable to maintain the recommended lifetime diet. Some recent epidemiological studies ...
The purpose of this letter to the editor is to illustrate the effect of tofacitinib on psoriatic skin lesions in a patient with Aicardi–Goutières syndrome (AGS) type 7/Singleton-Merten syndrome 1. AGS is chara...
Wiedemann–Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into be...
Thalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or struc...
Trophectoderm (TE) cell biopsy at the blastocyst stage is currently the most common method used in preimplantation genetic testing for monogenic disorders (PGT-M). However, this approach may result in the wast...
Interstitial Lung Disease in childhood (chILD) is rare, and little research has been conducted into the experience of fatigue. Fatigue is a complex phenomenon that can be difficult to quantify due to the vario...
Diagnosing rare diseases is challenging due to their low prevalence, diverse presentations, and limited recognition, often leading to diagnostic delays and errors. This study evaluates the effectiveness of mul...
Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole populati...
Accurate identification of parathyroid lesions in primary hyperparathyroidism (PHPT) patients is essential for minimally invasive surgery during pregnancy.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeuti...
Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn. Management of pregnancies in Gaucher patients is further c...
Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respect...
Glycogen storage disease (GSD) is a rare genetic disorder requiring continuous management. It poses a risk of progression to hepatocellular adenoma (HCA) and hepatocellular carcinoma. While ultrasonography is ...
Gallbladder carcinoma (GBC) accounts for 1.3% of cancer incidence and 1.7% of cancer-related deaths which emphasizes the need for comprehensive research in epidemiological trends.
Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inac...
Chronic singultus lasting longer than one month is a rare disease. Due to its low prevalence, generating evidence about it is difficult. Patients with chronic diseases struggle with considerable restrictions i...
Dystrophic epidermolysis bullosa (DEB) is a rare group of genetic skin-fragility conditions resulting in blisters and erosions of the skin and mucosa, evolving into dystrophic and retractile scars. This study ...
Adults with rare disorders experience multiple psychosocial risk factors beyond their medical symptoms, including impaired quality of life, social isolation, loneliness, and mental health problems. These risk ...
Orphanet Journal of Rare Diseases