Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited...
27 KB (3,118 words) - 04:33, 17 June 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...
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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)...
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neurodegenerative disorders are underway: Niemann-Pick disease type C, GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases), and ataxia–telangiectasia. In 2020...
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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...
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personality Randy Niemann (born 1955), American baseball coach and player Niemann–Pick disease Niemann-Pick disease, type C Niemann-Pick disease, SMPD1-associated...
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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...
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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...
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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...
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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...
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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...
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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...
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upon disclosing a CRL for arimoclomol, a proposed treatment for Niemann–Pick disease, type C, forcing the company to restructure. BioMarin Pharmaceutical...
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actor Sphingolipidoses Lysosomal storage disease Niemann–Pick disease Fabry disease Tay–Sachs disease Krabbe disease Metachromatic leukodystrophy Medical...
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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...
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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...
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These include the following: Prader-Willi syndrome; Norrie disease; Niemann–Pick disease, type C; and myotonic dystrophy. However, hypersomnia in these syndromes...
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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
treating progressive neurological complications in people with Niemann–Pick disease, type C (NPC). On 26 April 2023, the Committee for Medicinal Products...
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main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy...
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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
Cholesterol (redirect from Non-HDL-C)
Cholesterol" Janus-faced molecule List of cholesterol in foods Niemann–Pick disease Type C Oxycholesterol Remnant cholesterol "Cholesterol, 57-88-5". PubChem...
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and Niemann Pick disease type C, as well as cerebellar essential tremor, involve the progressive loss of Purkinje cells. In Alzheimer's disease, spinal...
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including mucolipidosis type IV and Niemann-Pick's disease type C, as well as other conditions such as stroke and Alzheimer's disease. Feng X, Xiong J, Lu...
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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...
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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...
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Index of molecular biology articles (section C)
neurofibromatosis - NH41 - nick (DNA) - nick translation - NIDDM1 - Niemann-Pick disease, type C - nitrate-transporting ATPase - non-coding DNA - non-coding strand...
22 KB (1,932 words) - 05:10, 4 August 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