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searching for Niemann–Pick disease, type C 16 found (36 total)

alternate case: niemann–Pick disease, type C

Epididymal secretory protein E1 (751 words) [view diff] exact match in snippet view article find links to article

Epididymal secretory protein E1 is a protein associated with Niemann-Pick disease, type C, which is one of the 3 types of the Niemann-Pick diseases (Type
NPC1 (2,718 words) [view diff] exact match in snippet view article find links to article
identified as the gene that when mutated, results in Niemann-Pick disease, type C. Niemann-Pick disease, type C is a rare neurovisceral lipid storage disorder
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
PTCHD4 (619 words) [view diff] no 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 orthologs
Chromosome 18 (1,237 words) [view diff] no match in snippet view article find links to article
Erythropoietic protoporphyria Hereditary hemorrhagic telangiectasia NiemannPick disease type C Porphyria Selective mutism Edwards syndrome (trisomy 18) Tetrasomy
Hydrops fetalis (1,673 words) [view diff] no match in snippet view article find links to article
is termed Hb Barts (consists of y-4 tetramers). Uncommonly, Niemann-Pick disease Type C (NPC) and Gaucher disease type 2 can present with hydrops fetalis
Amy Dockser Marcus (550 words) [view diff] no match in snippet view article find links to article
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
Index of molecular biology articles (1,928 words) [view diff] exact match in snippet view article find links to article
neurofibromatosis - NH41 - nick (DNA) - nick translation - NIDDM1 - Niemann-Pick disease, type C - nitrate-transporting ATPase - non-coding DNA - non-coding strand
Miglustat (1,684 words) [view diff] exact match in snippet view article find links to article
treating progressive neurological complications in people with NiemannPick disease, type C (NPC). On 26 April 2023, the Committee for Medicinal Products
Progressive myoclonus epilepsy (1,973 words) [view diff] no match in snippet view article find links to article
Tetrahydrobiopterin deficiencies Alpers disease Juvenile Huntington disease Niemann-Pick disease type C North Sea progressive myoclonus epilepsy (NSPME) This disease
Purkinje cell (3,275 words) [view diff] no match in snippet view article find links to article
before birth. The genetic conditions ataxia telangiectasia and Niemann Pick disease type C, as well as cerebellar essential tremor, involve the progressive
Mallory Factor (1,328 words) [view diff] no match in snippet view article find links to article
from IB1001 Multinational Clinical Trial for the Treatment of Niemann-Pick disease Type C". intrabio.com. 19 October 2020. Retrieved 2021-08-05. "Mallory
Jean Vance (1,565 words) [view diff] no match in snippet view article find links to article
cholesterol transport in neurons lacking the protein associated with NiemannPick disease type C, NPC1, and found that these defects can be addressed by treatment
Cholesterol (8,518 words) [view diff] no match in snippet view article find links to article
Cholesterol" Janus-faced molecule List of cholesterol in foods NiemannPick disease Type C Oxycholesterol Remnant cholesterol "Cholesterol, 57-88-5". PubChem
Apolipoprotein D (4,892 words) [view diff] no match in snippet view article find links to article
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:10.1089/dna
Ara Parseghian (6,594 words) [view diff] no match in snippet view article find links to article
Research Foundation in 1994. The foundation is seeking a cure for Niemann-Pick disease Type C, a genetic disorder affecting children that causes the buildup