Results 91 to 100 of about 12,634 (178)

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity. [PDF]

iScience
Munkacsi AB, Conway GE, Multerer K, Jackson MD, Csaki L, Rajakumar T, Sheridan JP, Niktab E, Hwu WL, Chien YH, Walterfang M, Del Rio Hernandez C, Chan RB, Zhou B, Nandakumar R, Zhang P, Di Paolo G, Maue RA, Reue K, Sturley SL.   +19 more
europepmc   +1 more source

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane. [PDF]

J Biol Chem
Kim H, Lipp NF, Juarez-Contreras I, Wong AM, Budin I.   +4 more
europepmc   +1 more source

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the <i>NPC1</i> Gene. [PDF]

Genes (Basel)
Monteiro B, Peixoto MI, Ortigoza-Escobar JD, Alves M, Sandiares AC, Gonçalves M, Moreira LV, Coutinho MF, Matos L, Alves S, Encarnação M.   +10 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study. [PDF]

Orphanet J Rare Dis
Morsy AS, Mbua S, Mathieson T, Hopkin J, Bolton S.   +4 more
europepmc   +1 more source

Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study. [PDF]

Medicine (Baltimore)
Wang Y, Huang S.
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

Special Issue "The Role of Lipids in Health and Diseases". [PDF]

Int J Mol Sci
Wang Y.
europepmc   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 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