Results 121 to 130 of about 2,350,820 (217)

M6PR/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2. [PDF]

J Biol Chem
Fujita T, Terawaki S, Moriwaki T, Otomo T.   +3 more
europepmc   +1 more source

Niemann-Pick disease

, 2014
Frank Gaillard, Daniel Bell, Sachi Hapugoda   +2 more
openaire   +2 more sources

From autophagy-lysosomal deficits to neurodegeneration in Niemann-Pick type C1 disease: implications for age-related neurodegenerative disorders. [PDF]

Front Neurosci
Kawachi Y, Kocak G, Korolchuk VI, Kataura T, Sarkar S.   +4 more
europepmc   +1 more source

A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C. [PDF]

J Inherit Metab Dis
Szenfeld B, Las Heras M, Rubilar JC, Villarreal P, Olguín V, Cubillos FA, Klein AD.   +6 more
europepmc   +1 more source

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency. [PDF]

Cells
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

Synthesis of N-Acetyl-D- and -L-Leucine-¹³C₆ Tool Compounds in Neurodegenerative Disease. [PDF]

ChemMedChem
Crepin D, McGown A, Shepherd D, Braine R, Sharma M, Nafie J, Ribeiro JG, Pantoş GD, Churchill G, Platt FM, Spencer J.   +10 more
europepmc   +1 more source

Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy. [PDF]

Mol Genet Metab Rep
Mengel E, Arash-Kaps L, Grunewald S, Weller Grønborg S, Berger N, Shammas H, Dali CÍ.   +6 more
europepmc   +1 more source

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease

Family Medicine & Primary Care Review
Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk   +2 more
doaj   +1 more source

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +1 more source