The etiology of cholelithiasis in children and adolescents—a literature review

K Zdanowicz, J Daniluk, DM Lebensztejn… - International journal of …, 2022 - mdpi.com
The incidence of gallstone disease has increased in recent years. The pathogenesis of
cholelithiasis is not fully understood. The occurrence of the disease is influenced by both …

[HTML][HTML] Gaucher disease

GM Pastores, DA Hughes - 2018 - europepmc.org
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

M Kałużna, I Trzeciak, K Ziemnicka… - Orphanet Journal of …, 2019 - Springer
Background Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases
and is associated with hormonal and metabolic abnormalities, including nutritional status …

Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist

F Carubbi, MD Cappellini, S Fargion… - Digestive and Liver …, 2020 - Elsevier
Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient
glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the …

[HTML][HTML] Liver involvement in patients with Gaucher disease types I and III

RT Starosta, FP e Vairo, AD Dornelles… - Molecular Genetics and …, 2020 - Elsevier
Background & aims Gaucher disease (GD) is a multisystemic disease. Liver involvement in
GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular …

The relationship between gallstone disease and the genetic variants of the sterol transporter adenosine triphosphate–binding cassette G8 and G5 in Egyptians

MA Hassan, SMA El-Khair, NM Mesbah… - Egyptian Journal of …, 2025 - Springer
Background Gallstones are abnormal lumps in the gallbladder or biliary tract due impaired
cholesterol, bilirubin, or bile salt metabolism. The Adenosine triphosphate binding cassette …

[HTML][HTML] 戈谢病治疗的研究进展

步晓洁, 赵艳霞, 孙立荣 - Advances in Clinical Medicine, 2025 - hanspub.org
戈谢病是一种罕见病, 可累及肝脏, 脾脏, 骨骼等多种组织器官, 引发多种并发症,
常见的临床表现有肝脏肿大, 脾脏肿大, 贫血, 血小板减少, 骨坏死等, 酶替代治疗等治疗方法可以 …

[HTML][HTML] 脾切除术联合伊米苷酶治疗儿童戈谢病一例并文献复习

步晓洁, 赵艳霞, 姜健, 王玲珍, 孙立荣… - Advances in Clinical …, 2021 - hanspub.org
目的: 回顾性分析1 例伴骨骼损害, 脾脏肿大的戈谢病患儿的临床资料, 并查阅, 复习相关文献,
旨在提高临床医师对戈谢病诊治的认识. 方法: 回顾性分析青岛大学附属医院血液儿科收治的1 …

Gaucher disease

DA Hughes, GM Pastores - 2018 - europepmc.org
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal
disorder to an asymptomatic type. The characterization of three major clinical types (1, 2 …

The role of lipid profile assessment in monitoring the effect of imiglucerase in children with gaucher disease

AI Awadh - Research Journal of Pharmacy and Technology, 2023 - indianjournals.com
Background Gaucher disease (GD) is an autosomal recessive hereditary illness. Many
biomarkers may have a role in the etiology, pathophysiology, diagnosis, and prognosis of …