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Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documentMarieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
The Journal of Clinical Investigation|February 4, 2014
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerDanielle te Vruchte, Anneliese O Speak, Kerri L Wallom, et al.
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