Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited...
28 KB (3,150 words) - 19:55, 23 August 2024
Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick...
46 KB (5,143 words) - 23:19, 13 August 2024
recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II)...
18 KB (1,819 words) - 05:23, 3 April 2024
neurodegenerative disorders are underway: Niemann-Pick disease type C, GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases), and ataxia–telangiectasia. In 2020...
7 KB (452 words) - 14:09, 19 June 2024
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...
24 KB (2,718 words) - 10:56, 11 April 2024
baseball coach and player Niemann–Pick disease Niemann-Pick disease, type C Niemann-Pick disease, SMPD1-associated Niemann Foods Nieman (surname) Neumann...
2 KB (229 words) - 20:25, 3 September 2024
Type C or Type-C may refer to: Europlug, a type C power plug Niemann–Pick disease, type C Type C videotape USB-C Chromogenic color print, a photographic...
529 bytes (101 words) - 00:47, 12 May 2024
Nicotine withdrawal Niemann–Pick disease Niemann–Pick C1 disease Niemann–Pick C2 disease Niemann–Pick disease, type C Niemann-Pick disease type D Night blindness...
8 KB (654 words) - 16:03, 15 March 2024
Acid sphingomyelinase (category Lysosomal storage diseases)
Ashkenazi Jewish descent (1:80-1:100) or of North African descent. Niemann–Pick disease, type C (NPC) is also a lysosomal storage disorder, but instead is caused...
8 KB (878 words) - 23:29, 13 August 2024
associated with Niemann-Pick disease, type C, which is one of the 3 types of the Niemann-Pick diseases (Type A, B, and C). This disease can lead to an...
6 KB (751 words) - 20:38, 2 February 2024
Uncommonly, Niemann-Pick disease Type C (NPC) and Gaucher disease type 2 can present with hydrops fetalis. Turner syndrome Tumors, the most common type of fetal...
16 KB (1,676 words) - 00:22, 3 September 2024
Spinocerebellar ataxia (category Rare diseases)
N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and GM2 gangliosidosis (Tay-Sachs and Sandhoff disease). Future opportunities to develop...
37 KB (2,946 words) - 15:44, 7 July 2024
Conjugate gaze palsy (category Eye diseases)
Olivopontocerebellar syndrome, Niemann-Pick Disease, Type C, or envenomation such as from a scorpion sting. The location of the lesion determines the type of palsy. Nonselective...
15 KB (1,706 words) - 16:39, 17 March 2024
GM2 gangliosidoses (category Rare diseases)
clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and Ataxia-Telangiectasia. Future opportunities to develop N-Acetyl-Leucine...
12 KB (1,240 words) - 14:39, 22 June 2024
Ataxia–telangiectasia (section Lung disease)
N-Acetyl-L-Leucine for the treatment Niemann-Pick disease type C and GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) Future opportunities to develop N-Acetyl-Leucine...
80 KB (10,530 words) - 11:14, 15 July 2024
main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy...
10 KB (652 words) - 23:45, 13 August 2024
Plasmalogen (section Possible disease links)
neurodegenerative disorders including Alzheimer disease, Parkinson's disease, Niemann–Pick disease, type C, Down syndrome, and multiple sclerosis, it is...
25 KB (2,833 words) - 01:23, 13 August 2024
upon disclosing a CRL for arimoclomol, a proposed treatment for Niemann–Pick disease, type C, forcing the company to restructure. BioMarin Pharmaceutical...
7 KB (757 words) - 22:55, 23 July 2024
actor Sphingolipidoses Lysosomal storage disease Niemann–Pick disease Fabry disease Tay–Sachs disease Krabbe disease Metachromatic leukodystrophy Medical...
30 KB (3,311 words) - 19:53, 23 August 2024
Notch signaling pathway Niemann–Pick disease, type C NPC1, a protein involved in the disease NPC2, a protein involved in the disease Nuclear pore complex...
3 KB (332 words) - 12:34, 21 May 2024
These include the following: Prader-Willi syndrome; Norrie disease; Niemann–Pick disease, type C; and myotonic dystrophy. However, hypersomnia in these syndromes...
36 KB (4,357 words) - 15:13, 17 June 2024
Sweat gland (redirect from Sweat gland diseases)
storage disease includes abnormal lipid deposits in cells, including those of the sweat gland. Niemann-Pick disease type C, another lipid storage disease, includes...
44 KB (4,611 words) - 06:47, 3 August 2024
Index of molecular biology articles (section C)
neurofibromatosis - NH41 - nick (DNA) - nick translation - NIDDM1 - Niemann-Pick disease, type C - nitrate-transporting ATPase - NMNH (Dihydronicotinamide Mononucleotide)...
23 KB (1,959 words) - 14:34, 13 September 2024
treating progressive neurological complications in people with Niemann–Pick disease, type C (NPC). On 26 April 2023, the Committee for Medicinal Products...
21 KB (1,687 words) - 09:47, 20 August 2024
book}}: |work= ignored (help) Evans, WRH; Hendriksz, CJ (2017). "Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation...
16 KB (1,643 words) - 13:32, 29 July 2024
and Niemann Pick disease type C, as well as cerebellar essential tremor, involve the progressive loss of Purkinje cells. In Alzheimer's disease, spinal...
29 KB (3,300 words) - 18:55, 13 September 2024
Sterol-sensing domain (section Disease)
syndrome (SLOS). Mutations in NPC1 have been shown to cause Niemann–Pick disease, type C. Mutations in patched are associated with a variety of cancers...
3 KB (370 words) - 20:29, 11 September 2020
Progressive myoclonus epilepsy (category Epilepsy types)
neuronopathic form of Gaucher disease Tetrahydrobiopterin deficiencies Alpers disease Juvenile Huntington disease Niemann-Pick disease type C North Sea progressive...
17 KB (1,973 words) - 20:19, 31 March 2024
Chromosome 18 (section Diseases and disorders)
attachment protein NOL4: encoding protein Nucleolar protein 4 NPC1: Niemann-Pick disease, type C1 PIGN: encoding protein Phosphatidylinositol glycan anchor biosynthesis...
19 KB (1,237 words) - 23:27, 28 March 2024
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...
75 KB (6,613 words) - 23:01, 10 September 2024