Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases. [PDF]
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Anaesthetic Challenges During Colonoscopy-Induced Intestinal Perforation in a Cat. [PDF]
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Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report. [PDF]
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Progressive Symmetric Erythrokeratoderma with Lesional Hypertrichosis: An Unusual Finding in a Rare Disease. [PDF]
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Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation. [PDF]
Ann Indian Acad NeurolDesai S +3 more
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Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome. [PDF]
Pediatr NephrolGehad 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]
Health Sci RepJalal L, Basaria AAA, Yokolo H.
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Sea-blue histiocytosis: an unusual small-bowel endoscopic finding. [PDF]
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Blood metabolic profile and complete blood count of sheep during late pregnancy and lactation. [PDF]
Arch Anim BreedAntunović Z +4 more
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A Novel Entity of Renal Toxicity After Combination Chemotherapy: An Onco-Nephrology Kidney Biopsy Teaching Case. [PDF]
Kidney MedBerti GM +7 more
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