Results 121 to 130 of about 2,486,172 (179)

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

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

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +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

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis. [PDF]

Front Pediatr
Zhang L, Yu Q, Ge X, Xie X.
europepmc   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. [PDF]

J Clin Invest, 2014
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.   +35 more
europepmc   +1 more source

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum. [PDF]

Cureus
Nikam R, Eghbal A, Sanger T, Garavatti E.   +3 more
europepmc   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +1 more source

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]

Front Med (Lausanne)
Wang H, Xing W.
europepmc   +1 more source