Results 121 to 130 of about 2,604,703 (185)

Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing. [PDF]

Int J Mol Sci
Lipiński P, Węgrzyn G.
europepmc   +1 more source

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report. [PDF]

Cureus
Bousellam B, Eddaoui HA, Regragui A, Benchekroun N, Belmekki M.   +4 more
europepmc   +1 more source

Autophagy-lysosomal pathway in neurodegeneration. [PDF]

Mol Neurodegener Adv
McDonough SR, Rao AK, McAleer JM, Babrowicz BM, Sharma M.   +4 more
europepmc   +1 more source

Sandhoff Disease Associated With Bipolar Disorder: A Case Report From the United Arab Emirates. [PDF]

Cureus
Abdelrahman A, Alowais M, Elamin A, Ahmed AE, Rakhange A, Darweesh A, Adi AJ, Otour A.   +7 more
europepmc   +1 more source

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source

Morquio syndrome masquerading as juvenile idiopathic Arthritis: A case report. [PDF]

Radiol Case Rep
Kadiri ZA, El Binoune I, Amine B, Kabbaj A, Zemrani S, Rostom S, Rachid B.   +6 more
europepmc   +1 more source

Splenic Steatopathy: A Clinical and Experimental Framework for Lipid-Associated Splenic Pathology. [PDF]

Clin Exp Gastroenterol
Shelat VG.
europepmc   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report. [PDF]

Clin Case Rep
Waqas M, Bano R, Haider MU, Abhishek K, Mehmood A, Abbas A, Ali A, Basheer T, Altaf RM, Samadi Y.   +9 more
europepmc   +1 more source