Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A. [PDF]
Sci RepMuller A +8 more
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Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]
Genet Med OpenGangji RN +5 more
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The involvement of underrepresented countries in the European rare diseases research alliance: Morocco's assets. [PDF]
Orphanet J Rare DisFdil N.
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In Silico Structural Modeling and Binding Site Analysis of Cerebroside Sulfotransferase (CST): A Therapeutic Target for Developing Substrate Reduction Therapy for Metachromatic Leukodystrophy. [PDF]
ACS OmegaSingh N, Singh AK.
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Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study. [PDF]
Clin Case RepShah BK +4 more
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Bioactive Secondary Metabolites from Harposporium anguillulae Against Meloidogyne incognita. [PDF]
MicroorganismsLi D +5 more
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A Rare Clinical Confluence: Metachromatic Leukodystrophy and Distal Renal Tubular Acidosis. [PDF]
Indian J NephrolKumar N, Panda S, Shanker A.
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