Results 91 to 100 of about 5,194,122 (262)
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
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Acute Diagnosis of Wilson’s Disease in a Teenage Patient
Marshall Journal of Medicine, 2019 Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms.
Ryan McCarthy
doaj +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
Wilson's disease - clinical picture, factors influencing disease progression, treatment methods [PDF]
Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic metabolic disorder that leads to excessive accumulation of copper in the body, particularly in the liver and brain.
Kołodziej , Wojciech +9 more
core +3 more sources
A Case of Wilson’s Disease Mimicking Malignancy
Haseki Tıp Bülteni, 2014 Wilson’s disease is a rare autosomal recessive inherited disorder of copper metabolism that causes various degrees of hepatic and neuropsychiatric symptoms. The condition is due to mutations in the ATP7B gene localized to arm 13q.
Ahmet Akın +3 more
doaj +1 more source
Journal of Neurology, Neurosurgery & Psychiatry, 1997 In Kinnier Wilson’s textbook,1 he writes about the disease that bears his name: “My monograph of 1912 described a disease unknown to the medical profession at that time”. While summarising the essential features he emphasises the familial but not congenital nature of the illness, which lasted a few months in acute cases, many years in chronic cases ...
openaire +2 more sources
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Бюллетень сибирской медицины, 2005 Hepatolenticular degeneration or Wilson's disease is the hereditary disease, caused by derangement of copper metabolism and its precipitation in brain and internal.
O. Yu. Koryagina +2 more
doaj +1 more source
Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs
The Anatomical Record, EarlyView.Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy +3 more
wiley +1 more source