Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]
Carneiro A, Jones DH.
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Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases. [PDF]
Dumitriu A +9 more
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Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation. [PDF]
Desai S +3 more
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Progressive Symmetric Erythrokeratoderma with Lesional Hypertrichosis: An Unusual Finding in a Rare Disease. [PDF]
Sadhukhan S, Kaur M, Bains A, Elhence P.
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Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome. [PDF]
Gehad MH +4 more
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FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]
Jalal L, Basaria AAA, Yokolo H.
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Left-Sided Portal Hypertension Induced by Splenic Arteriovenous Malformation: A Case Report. [PDF]
Zhang S +5 more
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Sea-blue histiocytosis: an unusual small-bowel endoscopic finding. [PDF]
Safatle-Ribeiro AV +5 more
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B-Mode Ultrasonographic Evaluation and Reference Dimensions of the Liver and Spleen in Healthy Lactating Saanen Goats. [PDF]
Silva TVD +4 more
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