Results 121 to 130 of about 14,662 (177)

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

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child. [PDF]

Cureus
Al Shahrani AM, Asiri W, Alqarni SAM, Al Murayeh LM.   +3 more
europepmc   +1 more source

Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B. [PDF]

J Vitreoretin Dis
Li Y, Cherepanoff S, Fung AT.
europepmc   +1 more source

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale. [PDF]

Mol Genet Metab Rep
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ.   +22 more
europepmc   +1 more source

A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann-Pick Disease Type C. [PDF]

Genes (Basel)
Sanchez KL, Shin SD, Rajagopal NP, White JB, Currais A, Soriano-Castell D, Maher P, Soriano S.   +7 more
europepmc   +1 more source

Sterol O-Acyltransferase 1 (<i>SOAT1</i>): A Genetic Modifier of Niemann-Pick Disease, Type C1. [PDF]

Int J Mol Sci
Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD.   +8 more
europepmc   +1 more source

Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial. [PDF]

Intractable Rare Dis Res
Zhang H, Xiong H, Wei C, Yi M, Che Y, Zhuo J, Li X.   +6 more
europepmc   +1 more source

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. [PDF]

J Child Neurol
Farmer C, Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB.   +12 more
europepmc   +1 more source

Niemann-Pick disease type C

, 2016
openaire   +1 more source