Results 61 to 70 of about 12,631 (179)

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

Systemic lupus erythematosus, antiphospholipid syndrome and Hashimoto thyroiditis occurring in a patient with Niemann-Pick disease: a second case

The Pan African Medical Journal, 2020
Lysosomial diseases and autoimmune diseases are systemic disorders. Their clinical manifestations can overlap with the broad spectrum of one another. Their association has been rarely reported.
Wafa Baya, Fatma Ben Fredj, Imen Ben Hassine, Jihed Anoun, Anis Mzabi, Monia Karmani, Amel Rezgui, Mohamed Adnane Laatiri, Chedia Laouani Kechrid   +8 more
doaj   +1 more source

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research

Neural Regeneration Research
Alzheimer’s disease is initially thought to be caused by age-associated accumulation of plaques, in recent years, research has increasingly associated Alzheimer’s disease with lysosomal storage and metabolic disorders, and the explanation of its ...
Vikas Anil Gujjala, Morteza Abyadeh, Isaiah Klimek, Alexander Tyshkovskiy, Naci Oz, José Pedro Castro, Vadim N. Gladyshev, Jason Newton, Alaattin Kaya   +8 more
doaj   +1 more source

NPD TYPE C — WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS

Педиатрическая фармакология, 2011
In recent years in expanding diagnostic capabilities and improved knowledge level diseases that were previously considered rare become increasingly identified.
L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan   +5 more
doaj   +2 more sources

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Diagnostics
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +1 more source

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj  

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene. [PDF]

Med J Islam Repub Iran, 2019
Zahedi Abghari F, Bayat F, Razipour M, Karimipoor M, Taghavi-Basmenj M, Zeinali S, Davoudi-Dehaghani E.   +6 more
europepmc   +1 more source

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases

Cells
Neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease, are characterized by progressive neuronal loss, leading to cognitive and motor impairments.
Jessica Tittelmeier, Carmen Nussbaum-Krammer   +1 more
doaj   +1 more source

Lipid Storage Diseases- A Clinico-haematological Study

Journal of Rawalpindi Medical College, 2012
Background: To study the clinico- haematological profile of lipid storage disorders in pediatric age group on bone marrow examination. Methods: In this descriptive study, clinicohaematological profile of patients with lipid storage diseases in 1147 ...
Mahwash Rashid
doaj