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Longer titles found: Niemann–Pick disease, SMPD1-associated (view), Niemann–Pick disease, type C (view)

searching for Niemann–Pick disease 9 found (111 total)

NPC1 (2,718 words) [view diff] exact match in snippet view article find links to article

Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded

Conjugate gaze palsy (1,706 words) [view diff] case mismatch in snippet view article find links to article

Progressive supranuclear palsy, Olivopontocerebellar syndrome, Niemann-Pick Disease, Type C, or envenomation such as from a scorpion sting. The location

Miglustat (1,684 words) [view diff] exact match in snippet view article find links to article

for treating progressive neurological complications in people with Niemann–Pick disease, type C (NPC). On 26 April 2023, the Committee for Medicinal Products

PTCHD4 (619 words) [view diff] exact match in snippet view article find links to article

genes in its family: PTCHD1, PTCHD2, and PTCHD3, as well as the Niemann-Pick disease type C protein. These paralogs are far less conserved than strict

Amy Dockser Marcus (550 words) [view diff] exact match in snippet view article find links to article

to make progress in finding a cure for a rare and fatal disease, Niemann-Pick disease type C. Her work with this community culminated in 2023 when Dockser

Insulin-induced gene 1 protein (1,789 words) [view diff] exact match in snippet view article find links to article

HMG-CoA-reductase and who might thus be regulated by INSIG1 as well: Niemann-Pick disease type C1 protein, which participates in the intracellular movement

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

RLBP1 Niemann–Pick disease, type A; 257200; SMPD1 Niemann–Pick disease, type B; 607616; SMPD1 Niemann–Pick disease, type C1; 257220; NPC1 Niemann–Pick disease

Hedgehog signaling pathway (6,895 words) [view diff] exact match in snippet view article find links to article

localization of which is controlled by PTCH. PTCH1 has homology to Niemann-Pick disease, type C1 (NPC1) that is known to transport lipophilic molecules across

Apolipoprotein D (4,892 words) [view diff] exact match in snippet view article find links to article

the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model". DNA and Cell Biology. 15 (10): 873–82. doi:10