Results 131 to 140 of about 2,486,172 (179)

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient. [PDF]

Mol Genet Metab Rep
Guimas A, Martins E.
europepmc   +1 more source

Pathological depositions in human disease: converging mechanisms in atherosclerosis, Alzheimer's disease, and related disorders. [PDF]

Mol Biomed
Ragolia L.
europepmc   +1 more source

Characterizing enteric pathology in MPS IIIA mice suggests disease-specific vulnerability among lysosomal storage disorders. [PDF]

JCI Insight
Ziółkowska EA, Williams L, Eultgen E, Kick GR, Ding X, Sorensen A, Le S, Doray B, Dickson PI, Heuckeroth RO, Cooper JD.   +10 more
europepmc   +1 more source

Alpha-Mannosidosis in a 3.5-Year-Old Girl: A Case Report. [PDF]

Clin Case Rep
Bonilla Fornes S, Mendez Perez MP, Torres Diaz M, Sanchez Gutierrez ME, Galán Gómez E.   +4 more
europepmc   +1 more source

Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements. [PDF]

Eur J Hosp Pharm
Barzel I, Brugma JC, Jacobs EH, Hoogeveen-Westerveld M, van der Kuy PHM, Preijers T.   +5 more
europepmc   +1 more source

The application of enzyme replacement therapy in vitro and in a mouse model in aspartylglycosaminuria [PDF]

Dunder, Ulla
core  

Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (<i>Macaca mulatta</i>). [PDF]

Vet Pathol
Olstad K, Pastenkos G, Barrera-Zarate J, Kanthaswamy S, Sammak R, Lemoy MJ.   +5 more
europepmc   +1 more source

Fetal Hepatosplenomegaly: Stepwise Diagnostic Framework, Diagnostic Approach to Fetal Hepatosplenomegaly. [PDF]

J Clin Med
Mazek M, Ciebiera M, Massalska D.
europepmc   +1 more source

Pathogenic mechanisms in Fabry disease. [PDF]

Front Med (Lausanne)
Wang S, Sun C.
europepmc   +1 more source