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About 923 results

ALLMedicine™ Pick Disease Center

Research & Reviews  339 results

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C.
https://doi.org/10.1097/WNF.0000000000000511
Clinical Neuropharmacology; Koç Yekedüz M, Öncül Ü et. al.

Jun 14th, 2022 - Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal disease in which psychiatric symptoms, such as psychosis, can also be observed. Miglustat is indicated in cases with progressive neurological manifestations, and although there ha...

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase defic...
https://doi.org/10.1515/jpem-2021-0480
Journal of Pediatric Endocrinology & Metabolism : JPEM; Kang H, Zhou M et. al.

May 27th, 2022 - Niemann-Pick disease type A (NPDA, MIM: 257200) is an autosomal recessive sphingolipidosis caused by lysosomal acid sphingomyelinase (ASM) deficiency. A cluster of genes located at chromosome 11p15 have been reported to be imprinted genes, such as...

Brain uptake and distribution patterns of 2-hydroxypropyl-ß-cyclodextrin after intrathe...
https://doi.org/10.1093/jpp/rgac001
The Journal of Pharmacy and Pharmacology; Banks WA, Calias P et. al.

May 22nd, 2022 - Cyclodextrins are increasingly used therapeutically. For example, 2-hydroxypropyl-ß-cyclodextrin (kleptose) is used for the treatment of Niemann-Pick disease. Kleptose crosses the blood-brain barrier poorly, in part because of a central nervous sy...

Rare Diseases in Glycosphingolipid Metabolism.
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Advances in Experimental Medicine and Biology; Zhou H, Wu Z et. al.

May 4th, 2022 - Sphingolipidoses is a cluster of genetic rare disorders regarding glycosphingolipid metabolism, classified as lysosomal storage disorders (LSD). Here, we focus on eight inheritable diseases, including GM1 gangliosidosis, GM2 gangliosidosis, Fabry ...

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Clinicaltrials.gov  7 results

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
https://clinicaltrials.gov/ct2/show/NCT01747135

Jul 23rd, 2021 - Niemann-Pick disease type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence. The causative genes NPC1 (about 95% of cases) and NPC2 (about 5% of case...

Biomarker for Niemann Pick Type C Disease (BioNPC)
https://clinicaltrials.gov/ct2/show/NCT01306604

May 13th, 2021 - Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration o...

Induced Pluripotent Stem Cells for Niemann Pick Disease
https://clinicaltrials.gov/ct2/show/NCT03883750

Apr 9th, 2021 - Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration o...

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
https://clinicaltrials.gov/ct2/show/NCT03759639

Apr 8th, 2021 - In the Parent Study, Patients will be assessed during three study phases: a baseline period, a 6-week treatment period, and a 6-week post-treatment washout period. If within 6 weeks prior to the initial screening visit, a patient has received any ...

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News  20 results

AI Spots Cognitive Decline; Vax Reactions in MS; When Cutting Opioids Harms Patients
https://www.medpagetoday.com/neurology/generalneurology/95824

Nov 23rd, 2021 - A deep learning model accurately detected cognitive decline from clinical notes up to 4 years before patients were diagnosed with mild cognitive impairment. (JAMA Network Open) Subjective sleep difficulties were associated with self-perceptions of...

Biomarker Detection Improves in Alzheimer's and CTE
https://www.medscape.com/viewarticle/911558

Apr 29th, 2019 - This transcript has been edited for clarity. This is the Medscape Neurology Minute. I'm Dr Alan Jacobs. Researchers from the National Institutes of Health have developed a highly selective and ultrasensitive method for detecting 3-repeat and 4-rep...

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.

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

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.

APOE affects tau pathology independent of amyloid-beta
https://www.mdedge.com/psychiatry/article/148673/alzheimers-cognition/apoe-affects-tau-pathology-independent-amyloid-beta
Michele G. Sullivan

Oct 4th, 2017 - Apolipoprotein E protein isoforms, particularly ApoE4, appear to accelerate brain-wide tau propagation that eventually leads to neuronal injury and death in a manner independent from amyloid-beta, according to findings from transgenic mouse model.

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Patient Education  3 results see all →