Results 61 to 70 of about 187,102 (250)
La Revue du praticien, 2006 Wilson's disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene chromosome 13. The discovery of the gene allowed a better understanding of cytosolic copper trafficking its relationship with ceruloplasmin synthesis. Symptomatic patients may present with hepatic, neurologic or psychiatric forms.
Duclos-Vallée, Jean-Charles +4 more
openaire +2 more sources
Advances in Digestive Medicine, EarlyView.Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar +5 more
wiley +1 more source
Clinical Case of Wilson — Konovalov Disease (Hepatolenticular Degeneration)
Zdorovʹe Rebenka, 2014 This article provides information about etiology, pathogenesis and clinical manifestations of Wilson — Konovalov disease, as well as own clinical observation of complicated case of Wilson — Konovalov disease (hepatolenticular degeneration) in 10-year ...
O.O. Tsytsiura +5 more
doaj +1 more source
Glide Docking for Prediction of Potential Inhibitors of ATP7B Protein in Wilson Disease [PDF]
Journal of Advanced Biomedical SciencesBackground & Objectives: Wilson’s disease is a genetic disorder marked by the pathological accumulation of copper in the liver and brain due to malfunctioning of the ATP7B protein.
Monir Shalbafan +2 more
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Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease
La Pediatria Medica e Chirurgica, 2012 We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia.
M.G. Marazzi +5 more
doaj +1 more source
Rationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna +11 more
wiley +1 more source
Frontiers in PediatricsWilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated
Yuemiao Wang +4 more
doaj +1 more source
Atypical Presentation of Wilson Disease without Kayser-Fleischer Ring in Geriatric Age [PDF]
Al Ameen Journal of Medical Sciences, 2010 It is a rare event for Wilson Disease to have onset in geriatric age with neurological symptoms. And it is even rarer for such a condition to occur in the absence of Kayser-Fleischer Ring.
Anil Kumar T +3 more
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