Results 61 to 70 of about 796 (126)

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature. [PDF]

Epilepsia Open
Gburek-Augustat J, Lee IC, Rubino M, Topçu V, Chavez-Castillo M, Tu SC, Shinawi M, Alfradique-Dunham I, Valtcheva M, Adarmes-Gómez A, Macias-Garcia D, Laura Muñoz-Delgado L, Jesús S, Mir P, Merkenschlager A, Coppola A.   +15 more
europepmc   +1 more source

Fucosidosis: A Review of a Rare Disease. [PDF]

Int J Mol Sci
Pekdemir B, Bechelany M, Karav S.
europepmc   +1 more source

The Need for Pediatric Palliative Care in Romania: A Retrospective Study (2022-2023) Based on Quantitative Research and Analysis of Secondary Statistical Data. [PDF]

Medicina (Kaunas)
Hizanu Dumitrache M, Duceac Covrig M, Mîndru DE, Plesea Condratovici A, Mitrea G, Elkan EM, Curici A, Gafton B, Duceac LD.   +8 more
europepmc   +1 more source

Mucolipidoses II (I-cell disease): case report

, 2007
F Akalin, N Elçioglu, A Fensom
core   +1 more source

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

, 2005
Maeda, H., Ishimaru, T., Velez-Castrillon, S., Beck, Michael, Nishioka, T., Ullrich, K., Isogai, K., Barrera, L.A., Kircher, S.G., Frenking, G. Schulze, Paschke, E., Suzuki, Yasuyuki, Gutierrez, M.A., Thornley, M., Noguchi, A., Laybauer, L.S., Schwartz, Ida Vanessa Doederlein, Yamaguchi, S. N., Fachel, A.A., Cooper, A., Giugliani, Roberto, Wraith, E., Orii, T., Tomatsu, Shunji, Peña, O.M., Montaño, Adriana Maria   +25 more
core   +1 more source

Defect in lysosomal enzyme trafficking and sorting is associated with irreversibility of pulmonary arterial hypertension. [PDF]

Front Cardiovasc Med
Xiao G, Meng Y, Du Z, Liu Z, Yu H, Wang H, Nie L, Liu X, Lan X, Duan Y, Xiong J, Liu Z.   +11 more
europepmc   +1 more source

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

, 2005
Maeda, H., Orii, Koji O., Kondo, Naomi, Tanaka, A., Okamura, Kazuo, Taketani, Takeshi, Beck, Michael, Nishioka, T., Isogai, K., Ullrich, K., Suzuki, Y., Barrera, L.A., Kircher, S.G., Frenking, G. Schulze, Haskins, M., Castrillon, S.V., Paschke, E., Gutierrez, M.A., Thornley, M., Noguchi, A., Laybauer, L.S., Schwartz, Ida Vanessa Doederlein, Okuyama, Torayuki, Yamaguchi, S. N., Fachel, A.A., Cooper, A., Giugliani, Roberto, Creer, Michael, Wraith, E., Grubb, Jeffrey H., Orii, T., Tomatsu, Shunji   +31 more
core   +1 more source

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis. [PDF]

BMC Med Genomics
Mohsenipour M, Nejati P, Khosravi T, Alimoradi E, Salehi M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source