Results 51 to 60 of about 11,447 (146)

Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

Quality in Sport
Introduction: Wilson's disease (WD) is a genetic disease, inherited in an autosomal recessive manner, caused by a mutation in the ATP7B gene, which results in impaired excretion of copper in the bile.
Natalia Wdowiak, Martyna Choinka, Agata Konopka, Zuzanna Szczepaniak, Kinga Adamska   +4 more
doaj   +1 more source

Intractable Rickets as Presenting Feature of Wilson's Disease

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2004
Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilson's disease is a relatively rare cause.
A Bahrami-Ahmadi, J Shakeri, A Haghighi, MB owlia   +3 more
doaj  

Wilson’s Disease. Onset and Complex Diagnosis: Clinical Case

Вопросы современной педиатрии
Background. The low prevalence of Wilson’s disease, diversity of clinical signs, long latent course, inheritance features make it difficult to diagnose and require multidisciplinary approach from doctors. Clinical case description. This article describes
Elena S. Zastelo, Elvira N. Fedulova, Anastasiya N. Gabrikevich, Tatiana V. Skochilova, Anatoly I. Khavkin   +4 more
doaj   +1 more source

Characteristics of neurological Wilson’s disease with corpus callosum abnormalities [PDF]

, 2019
Zhihua Zhou, Yunfan Wu, Jin Cao, Jiyuan Hu, Yongzhu Han, Mingfan Hong, Gong-qiang Wang, Shuhu Liu, Wang Xuemin   +8 more
openalex   +1 more source

Successful Photorefractive Keratectomy in a Case of Wilson’s Disease [PDF]

, 2021
Saeed Shokoohi-Rad, Hamid Reza Heidarzadeh   +1 more
openalex   +1 more source

Wilson’s Disease. By I. Herbert Scheinberg and Irmin Sternblieb (Vol. XIII Major Problems in Internal Medicine, Lloyd H. Smith, Jr., Editor). 171 pp. + x. Philadelphia: W. B. Saunders, 1984. [PDF]

, 1984
Lisa Lo Presti
openalex   +1 more source

Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the ATP7B Gene: Clinical Cases

Вопросы современной педиатрии
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value
Denis K. Chernevskiy, Alla E. Lavrova, Ekaterina Yu. Konovalova, Elena Yu. Borisova, Natalia A. Doroshchuk, Olga S. Groznova   +5 more
doaj   +1 more source

Copper Deficiency Myeloneuropathy in a Patient With Wilson’s Disease [PDF]

, 2023
Yu Wang, Zijun Wei, Jianing Mei, Xueyi Han, Hongping Zhao, Yulong Zhu, Ping Jin, Yunyun Zhang   +7 more
openalex   +1 more source

INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

, 2021
O. A. Zhigaltsova-Kuchinskaya, N. N. Silivontchik, Likhachev Sa, И. В. Плешко, A. A. Klyuchareva, G. D. Sitnik   +5 more
openalex   +2 more sources

Wilson’s disease: Food therapy out of trace elements [PDF]

, 2022
Wenjie Li, Huan-Ling Chen, Bin Wang, Lei Yao, Xiaoping Wang   +4 more
openalex   +1 more source