Results 181 to 190 of about 48,564 (222)

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2013
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions. [PDF]

J Inherit Metab Dis
Cawley NX, Zhou R, Farhat NM, Iben J, Alexander DM, Luke RA, Padilla CJ, Mohamed HO, Albert OK, Robbins KP, Rahhal S, Do AD, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +15 more
europepmc   +1 more source

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1. [PDF]

J Lipid Res
Mishra S, Kell P, Scherrer D, Dietzen DJ, Vite CH, Berry-Kravis E, Davidson C, Cologna SM, Porter FD, Ory DS, Jiang X.   +10 more
europepmc   +1 more source

Sphingolipid Levels and Processing of the Retinyl Chromophore in the Retina of a Mouse Model of Niemann-Pick Disease. [PDF]

Invest Ophthalmol Vis Sci
Rahman B, Anderson DMG, Chen C, Liu J, Migas LG, Van de Plas R, Schey KL, Kono M, Fan J, Koutalos Y.   +9 more
europepmc   +1 more source

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC). [PDF]

Orphanet J Rare Dis
Stern S, Crisamore K, Schuck R, Pacanowski M.   +3 more
europepmc   +1 more source

The Possible Associations between Tauopathies and Atherosclerosis, Diabetes Mellitus, Dyslipidemias, Metabolic Syndrome and Niemann-Pick Disease. [PDF]

Diagnostics (Basel)
Fryncel A, Madetko-Alster N, Krępa Z, Kuch M, Alster P.   +4 more
europepmc   +1 more source

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

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +1 more source

Characterization of central manifestations in patients with Niemann-Pick disease type C. [PDF]

Genet Med
van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J.   +16 more
europepmc   +1 more source

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells. [PDF]

Metabolites
Watanabe M, Maekawa M, Miyoshi K, Sato T, Sato Y, Kumondai M, Fukasawa M, Mano N.   +7 more
europepmc   +1 more source

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears. [PDF]

Hemasphere
Girard S, Pettazzoni M, Froissart R, Pagan C, Boyer T, Dulucq S, Gonçalves Monteiro V, Lechevalier N, Loosveld M, Lours C, Mayeur-Rousse C, Pannetier M, Peillon C, Rosenthal MA, Sep Hieng S, Trichet C, Baseggio L, on behalf the French‐Speaking Cellular Haematology Group (GFHC).   +17 more
europepmc   +1 more source