Orphanet Journal of Rare Diseases
Papers 2215
1 page of 222 pages (2,215 results)
#1Tokunbor A. Lawal (NIH: National Institutes of Health)H-Index: 2
#2Emily S. Wires (NIDA: National Institute on Drug Abuse)H-Index: 3
Last. Joshua J. Todd (NIH: National Institutes of Health)H-Index: 2
view all 5 authors...
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum of rare neuromuscular disorders. In RYR1-RM, intracellular calcium dysregulation, post-translational modifications, and decreased protein expression lead to a heterogenous clinical presentation including proximal muscle weakness, contracture...
#1Nantiya Mongkollarp (MU: Mahidol University)
#2Thipwimol Tim-Aroon (MU: Mahidol University)H-Index: 4
Last. Duangrurdee Wattanasirichaigoon (MU: Mahidol University)H-Index: 16
view all 7 authors...
BACKGROUND: Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific growth charts have been recommended for monitoring PWS patients. Previous literature demonstrated growth differences among individuals with PWS of different ethnicity. METHODS: A retrospective multicenter study was performed in PWS patients from ...
#1Jia Zhang (Capital Medical University)H-Index: 12
#2Yuan Sun (Boston Children's Hospital)H-Index: 1
Last. Lin Wu (Capital Medical University)H-Index: 4
view all 12 authors...
BACKGROUND: Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disorders, but may display some mutations or polymorphisms. Rapid immunological assays examining natural killer (NK) cell activity, degranulation function (CD107a), and protein expression related to genetic deficiencies have been recommended for early pHLH identification. METHODS: A ...
#1C Ponte (IMM: Instituto de Medicina Molecular)H-Index: 4
#2Nikita Khmelinskii (IMM: Instituto de Medicina Molecular)H-Index: 2
view all 34 authors...
BACKGROUND: The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register,, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and > 20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the European Vascu...
#1Fadie D Altuame (Alfaisal University)
Last. Mais HashemH-Index: 22
view all 11 authors...
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2. OBJECTIVE: We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and molecular findings. MATERIALS AND METHODS: We comprehensively analyzed the charts of 28 patients: 16 p...
#1Meng Ren (ECNU: East China Normal University)H-Index: 1
#2Jingru Shi (ECNU: East China Normal University)H-Index: 1
Last. Tieliu Shi (ECNU: East China Normal University)H-Index: 24
view all 6 authors...
BACKGROUND: Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate that new causative genes remain to be discovered. Here, we retrieved 341 cases from 60 BSCL-related studies worldwide and aimed to explore genotype-phenotype correlations based on mutations of AGPAT2 a...
BACKGROUND: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the explanation of genotypic and phenotypic h...
#1Sarah C. Grünert (University of Freiburg)H-Index: 10
#2Jörn Oliver Sass (Bonn-Rhein-Sieg University of Applied Sciences)H-Index: 27
BACKGROUND: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. METHODS: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical da...
#1Michael Smith (St Mary's Hospital)
#2Elizabeth Alexander (St Mary's Hospital)
Last. Florence RiccardiH-Index: 3
view all 28 authors...
BACKGROUND: The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Cong...
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Human genetics