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Last Updated: 10/31/2025
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Found 199 publications
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.
Journal: Journal of inherited metabolic disease
Published: May 21, 2025
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Journal: Orphanet journal of rare diseases
Published: March 14, 2025
Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.
Journal: Annals of human genetics
Published: September 01, 2024
Outcome and Prognostic Factors of Hemophagocytic Lymphohistiocytosis in Children: Experience From a Low- and Middle-Income Country.
Journal: Cureus
Published: June 16, 2024
Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.
Journal: Archives of endocrinology and metabolism
Published: March 01, 2024
Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model.
Journal: Communications medicine
Published: October 28, 2023
Beckwith-Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele.
Journal: Journal of medical ultrasound
Published: August 10, 2023
Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.
Journal: Radiology case reports
Published: June 06, 2023
Protectin DX as a therapeutic strategy against frailty in mice.
Journal: GeroScience
Published: January 03, 2023
Last Updated: 10/31/2025