Results 91 to 100 of about 3,245 (185)

Severe hepatic lipidosis in a dog: a case report. [PDF]

Vet Res Forum
Abbasi F, Jafarbeglou A, Asri-Rezaei S, Mahmoudi SS, Davoodi F, Raisi A.   +5 more
europepmc   +1 more source

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings. [PDF]

Arq Bras Oftalmol, 2023
Meşen S, Batur M, Ozer MD.
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]

Radiol Case Rep
Khan HG, Raj G, Yadav E, Gupta K, Kulshreshtha D, Ratna, Panda A, Kumar Y.   +7 more
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Evaluation of database-derived pathway development for enabling biomarker discovery for hepatotoxicity [PDF]

, 2014
Aerts, Hugo J. W., Gaj, Stan, Hebels, Dennie G. A., Herwig, Ralf, Jetten, Marlon J. A., Kleinjans, Jos C. S., Theunissen, Daniël H.J., van Delft, Joost H.   +7 more
core   +1 more source

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +1 more source

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]

J Med Case Rep
Oyama Y, Okawa K, Miyagi T, Sakai T, Otagiri K, Kitabayashi H.   +5 more
europepmc   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Purification and properties of staphylocoagulase [PDF]

, 1974
Bas, B.M., Hemker, H.C., Muller, A.D.
core   +2 more sources

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals. [PDF]

Hepatol Commun
Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ.   +11 more
europepmc   +1 more source