Results 91 to 100 of about 14,555 (206)

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

Image_1_Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain.PDF

, 2018
The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet.
Rolf G. Boot (783479), Marc P. Baggelaar (1451218), Annelot C. M. van Esbroeck (3843328), Herman S. Overkleeft (128584), Roelof Ottenhoff (128566), Hui Deng (455823), Eva J. van Rooden (1565989), Johannes M. F. G. Aerts (128594), Bogdan I. Florea (1330800), André R. A. Marques (783474), Mario van der Stelt (222751)   +10 more
core   +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

Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene.

, 2015
Niemann-Pick diseases are a group of rare autosomal recessive disorders caused by an inherited deficiency of lysosomal storage with similar clinical presentations.
OPERTO, FRANCESCA FELICIA, COPPOLA, Giangennaro, RIZZO, FRANCESCA, WEISZ, Alessandro, CHETTA , MASSIMILIANO, GUACCI, ANNA, MARCHESE, GIOVANNA   +6 more
core   +1 more source

Lysosomal and mitochondrial liaisons in Niemann Pick type C disease

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Enrich Bastús, Carles, García-Ruiz, Carmen, Zanlungo, Silvana, Fernández-Checa Torres, José Carlos, Torres, Sandra, Balboa, Elisa   +5 more
core  

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  

THE ROLE OF NIEMANN-PICK C1-LIKE 1 (NPC1L1) PROTEIN IN CHOLESTEROL TRANSPORT AND METABOLIC DISEASES

, 2010
Niemann-Pick C1-Like 1 (NPC1L1) is a polytopic transmembrane protein critical for intestinal absorption of dietary and biliary cholesterol. Ezetimibe, by inhibiting NPC1L1 function, is widely used to lower blood cholesterol in humans.
Jia, Lin
core  

NIEMANN-PICK DISEASE

Medicine, 1958
A C, CROCKER, S, FARBER
openaire   +2 more sources

Arthralgia, bone pain, positive antinuclear antibodies and thrombocytopenia...diagnosis: Niemann-Pick disease

, 2009
The differential diagnosis of rheumatic diseases is sometimes very complex given the lack of specificity of some clinical manifestations. A careful physical examination with the aid of laboratory and radiographic findings can lead us to some rare ...
Alexandre, M, Serra, S, Malcata, AB, Ambrósio, C   +3 more
core  

Die Schweizer Fälle von Splenohepatomegalie (Niemann-Pick) Ein Beitrag zur genetischen Abgrenzung der Phospatid-Lipoidosen

, 2017
In this paper a counterpart is given to the data of our investigation about the incidence of infantile amaurotic idiocy (Tay-Sachs) in Switzerland, published here in 1954. The term > is rather unclear and had to be critisised by Letterer. The diagnose of
Hanhart, E.
core