Results 31 to 40 of about 13,679,770 (330)
Wilson Disease: Update on Pathophysiology and Treatment
Frontiers in Cell and Developmental Biology, 2022 Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD.
Som Dev +3 more
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Wilson disease in children and young adults - State of the art
Saudi Journal of Gastroenterology, 2022 Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B gene, with a reported prevalence of 1:30,000–50,000. ATP7B encodes an enzyme called transmembrane copper-transporting ATPase, which is essential for copper ...
A. Chanpong, A. Dhawan
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First application of next-generation sequencing in four families with Wilson disease in Morocco
Egyptian Journal of Medical Human Genetics, 2023 Background Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain.
Maryem Sahli +5 more
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Calculated parameters for the diagnosis of Wilson disease
Singapore Medical Journal, 2023 Introduction: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed.
Nada Syazana Zulkufli +2 more
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Structure of the Wilson disease copper transporter ATP7B
Science Advances, 2022 ATP7A and ATP7B, two homologous copper-transporting P1B-type ATPases, play crucial roles in cellular copper homeostasis, and mutations cause Menkes and Wilson diseases, respectively.
Ryan M Bitter +5 more
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Recent advances in Wilson disease.
Translational Gastroenterology and Hepatology, 2021 Wilson disease (WD) is rare genetic disorder that presents with varied phenotype that can at times make the diagnosis challenging. Medical treatments are available, but there are still unmet needs for patients.
M. Moini, Uyen To, M. Schilsky
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The American Journal of Clinical Nutrition, 1956 During the past decade Wilson’s disease has become one of the most intensively studied neurological disorders. The current perfervid interest in this condition almost certainly stems from recent investigations on copper metabolism which have shed light on the pathogenesis of this otherwise esoteric and seemingly unimportant disease.
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Annals of Translational Medicine, 2021 Objective The goal of the present work is to provide an overview of the differential diagnosis of Wilson disease. Background Wilson disease is a rare condition due to copper accumulation primarily in the liver and brain.
S. Schroeder, K. Matsukuma, V. Medici
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Penicillamine-induced virginal mammary hypertrophy [PDF]
Archives of Aesthetic Plastic Surgery, 2021 Virginal mammary hypertrophy (VMH), also known as juvenile mammary hypertrophy, is characterized by excessive enlargement of the breasts. Especially in adolescent patients, this condition can cause a negative body image to develop and result in ...
Daiwon Jun +5 more
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ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
Biomedical Papers, 2020 Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive cholestatic liver disorder caused by genetic deficiency of ATP-binding cassette subfamily B member 4 (ABCB4), a hepatocanalicular floppase ...
Eva Sticova +4 more
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