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About 1,426 results

ALLMedicine™ Pick Disease Center

Research & Reviews  695 results

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881637
Orphanet Journal of Rare Diseases; Patterson MC, Lloyd-Price L et. al.

Feb 13th, 2021 - Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity Scale ...

Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mi...
https://doi.org/10.1016/j.ejphar.2021.173907
European Journal of Pharmacology; Ashikawa H, Mogi H et. al.

Jan 27th, 2021 - Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In the brain of pat...

Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839904
BMJ Case Reports; Mukherjee D, Dubey S et. al.

Jan 26th, 2021 - A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapy...

Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons.
https://doi.org/10.1002/mds.28463
Movement Disorders : Official Journal of the Movement Dis... Burbulla LF, Mc Donald JM et. al.

Jan 13th, 2021 - Niemann-Pick disease type C (NPC) is a rare autosomal-recessive lysosomal storage disease that is also associated with progressive neurodegeneration. NPC shares many pathological features with Alzheimer's disease, including neurofibrillary tangles...

Image-based screen capturing misfolding status of Niemann-Pick type C1 identifies poten...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735562
PloS One; Shioi R, Karaki F et. al.

Dec 14th, 2020 - Niemann-Pick disease type C is a rare, fatal neurodegenerative disorder characterized by massive intracellular accumulation of cholesterol. In most cases, loss-of-function mutations in the NPC1 gene that encodes lysosomal cholesterol transporter N...

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Clinicaltrials.gov  715 results

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881637
Orphanet Journal of Rare Diseases; Patterson MC, Lloyd-Price L et. al.

Feb 13th, 2021 - Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity Scale ...

Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mi...
https://doi.org/10.1016/j.ejphar.2021.173907
European Journal of Pharmacology; Ashikawa H, Mogi H et. al.

Jan 27th, 2021 - Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In the brain of pat...

Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839904
BMJ Case Reports; Mukherjee D, Dubey S et. al.

Jan 26th, 2021 - A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapy...

Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons.
https://doi.org/10.1002/mds.28463
Movement Disorders : Official Journal of the Movement Dis... Burbulla LF, Mc Donald JM et. al.

Jan 13th, 2021 - Niemann-Pick disease type C (NPC) is a rare autosomal-recessive lysosomal storage disease that is also associated with progressive neurodegeneration. NPC shares many pathological features with Alzheimer's disease, including neurofibrillary tangles...

Image-based screen capturing misfolding status of Niemann-Pick type C1 identifies poten...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735562
PloS One; Shioi R, Karaki F et. al.

Dec 14th, 2020 - Niemann-Pick disease type C is a rare, fatal neurodegenerative disorder characterized by massive intracellular accumulation of cholesterol. In most cases, loss-of-function mutations in the NPC1 gene that encodes lysosomal cholesterol transporter N...

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News  9 results

National Niemann-Pick Disease Foundation Seeks Executive Director
https://www.mdedge.com/pediatrics/article/155750/rare-diseases/national-niemann-pick-disease-foundation-seeks-executive

Jan 8th, 2018 - The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 pa.

Experimental Drug Slows Niemann-Pick Disease
https://www.mdedge.com/fedprac/article/146744/neurology/experimental-drug-slows-niemann-pick-disease
Jan Dyer

Sep 5th, 2017 - “Encouraging” results from a study with an experimental drug offer hope to patients with Niemann-Pick disease type C1 (NPC1), a fatal neurologic disease that affects children and adolescents. Symptoms of NPC1 result from cholesterol building in br.

FDA grants breakthrough therapy designation to Genzyme's Olipudase Alfa
https://www.reuters.com/article/us-sanofi-fda/fda-grants-breakthrough-therapy-designation-to-genzymes-olipudase-alfa-idUSKBN0OK0CT20150604

Jun 4th, 2015 - PARIS (Reuters) - Sanofi and its subsidiary Genzyme said on Thursday that the U.S. Food and Drug Administration (FDA) has granted breakthrough therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the tre...

Oral Health Management in the Patient With Dementia
https://www.medscape.com/viewarticle/743030_2

May 23rd, 2011 - Dementia Defined Dementia is the loss, usually progressive, of cognitive and intellectual functions without impairment of perception or consciousness. It is not a disease in and of itself but a symptom or group of symptoms that can manifest as a c...

Preimplantation Genetic Diagnosis and Screening
https://www.mdedge.com/obgyn/article/49127/preimplantation-genetic-diagnosis-and-screening/page/0/1

If our patients have Southeast Asian ancestry, we should consider α-thalassemia (1 in 30), and for patients with Mediterranean ancestry, β-thalassemia. For patients of Ashkenazi Jewish ancestry, genetic screening is performed routinely for the anc.

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Patient Education  7 results see all →