Results 131 to 140 of about 10,325 (203)

A Rare Cause of Splenomegaly: Acid Sphingomyelinase Deficiency Type B

Hitit Medical Journal
Acid Sphingomyelinase Deficiency is a rare, autosomal recessive inherited metabolic disorder caused by mutations in the SMPD1 gene. It is a pan-ethnic, multisystemic, often progressive, and potentially life-limiting condition, with an age of onset ranging from the first days of life to adulthood.
Havva Demircioğlu, Sinan Demircioğlu
openaire   +1 more source

Neurological diseases and stem cell transplantation - review paper [PDF]

, 2008
Stem cells and their potentials for therapy are major areas of research. The literature on the subject is expanding at a very rapid pace and the great prospectives offered by these remarkable cells are continuously being unravelled.
Blundell, Renald, Vassallo, J.
core  

An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.

The Tohoku journal of experimental medicine, 2020
Acid sphingomyelinase (ASM) is a lysosomal hydrolase that degrades sphingomyelin into ceramide and phosphocholine. Recent crystallographic studies revealed the functional role of the N-terminal ASM saposin domain. ASM deficiency due to mutations in the ASM-encoding sphingomyelin phosphodiesterase 1 (SMPD1) gene causes an autosomal recessive ...
Shozo, Ota, Atsuko, Noguchi, Daiki, Kondo, Yoko, Nakajima, Tetsuya, Ito, Hirokazu, Arai, Tsutomu, Takahashi   +6 more
openaire   +1 more source

Phenotype of acid sphingomyelinase deficiency knockout mice [PDF]

Cell Death & Differentiation, 2001
openaire   +1 more source

Wide-ranging alterations in the brain fatty acid complement of subjects with late Alzheimer’s disease as detected by GC-MS [PDF]

, 2016
Disturbed lipid metabolism is a well-established feature of human Alzheimer’s disease (AD). The present study used gas chromatography-mass spectrometry (GC-MS) analysis of fatty acid methyl esters (FAMES) to profile all detectable fatty acid (FA) species
Graham, Stewart F., Green, Brian, Holscher, Christian, Kehoe, Patrick, Nasaruddin, Muhammad Luqman   +4 more
core   +1 more source

La apolipoproteína D ralentiza el proceso de neurodegeneración en la enfermedad de Niemann-Pick tipo A [PDF]

, 2019
La enfermedad de Niemann-Pick tipo A (NPA) es una enfermedad de depósito lisosomal de herencia autosómico-recesiva. En ella, la deficiencia de esfingomielinasa ácida provoca un gran acúmulo de esfingomielina en las membranas celulares. Esto conduce a una
Fadrique Rojo, Cristian
core  

CHARACTERIZATION AND RESCUE OF THE ALTERATIONS IN OLIGODENDROCYTES MODELING THE ACID SPHINGOMYELINASE DEFICIENCY

IBRO Neuroscience Reports, 2023
Elena Melgarejo De La Peña, Marta Guerrero-Valero, Jaime Mulero Franco, Maria Dolores Ledesma   +3 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency

Acid sphingomyelinase deficiency (ASMD) is rare lysosomal storage disease in which sphingomyelin accumulates due to deficiency of the enzyme acid sphingomyelinase. ASMD covers a broad clinical spectrum with varying degrees of severity of which the chronic visceral subtype is the least severe.
openaire   +2 more sources

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil. [PDF]

J Clin Med
Giugliani R, Siqueira ACM, Martins AM, Marcondes BF, Souza CFM, Dain Gandelman Horovitz D, Leão EKE, Gusto G, Carvalho GDS, Artigalás O, Boy R, Stefani RR, Rawat NS, Konidaris G.   +13 more
europepmc   +1 more source

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup. [PDF]

Mol Genet Metab Rep
Arafa NA, Mahfouz A, Anwar S, Marzouk I.
europepmc   +1 more source