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| http://dx.doi.org/10.1089/gtmb.2013.1547 | DOI Listing |
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Current and Emerging Therapies for Lysosomal Storage Disorders.
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Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
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Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA.
Background: Chronic constipation, diarrhea, and fecal incontinence (FI) are prevalent with significant impact on quality of life and healthcare utilization. Thyroid dysfunction was recognized as a potential contributor to bowel disturbances in selected populations, but the strength/consistency of this association remain unclear.
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Association of salivary proteins with dental caries in children with mixed dentition: a systematic review.
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Qatar University Health, College of Dental Medicine, Qatar University, Doha, Qatar.
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[Clinical characteristics and prognosis of acute erythroleukemia in children].
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January 2025
Department of Children's Hematology and Oncology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
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Objectives: To evaluate the benefit of neoadjuvant chemotherapy (NAC) for patients with high-risk upper tract urothelial carcinoma (UTUC) using a large, well-curated multi-institutional database.
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