Results 21 to 30 of about 2,438 (157)

Basilar Artery Occlusion Stroke Managed With Tenecteplase Versus Alteplase Before Endovascular Treatment (BAO-TNK). [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective To compare the effectiveness and safety of tenecteplase (TNK) versus alteplase (TPA) in patients with basilar artery occlusion prior to endovascular treatment (EVT). Methods In this retrospective multicenter study (BAO‐TNK), we analyzed consecutive BAO patients from 14 U.S.
Karamchandani RR, Wolman DN, Bielinski TM, Goyal N, Rhoten JB, Jayaraman MV, Sidebottom CT, Gross BA, Al-Bayati AR, Doheim MF, Tobin MK, Chinthala A, Gajjar A, Mascitelli J, Webb MR, Burkhardt JK, Scott KW, Srinivasan V, Tonetti D, Koneru M, Altschul DJ, Vaishnav D, Multani S, Theofanis T, Ares WJ, Sone JY, Zand R, Bahrami S, Li J, Defilipp G, Strong D, Torabi R, Moldovan K, Kline KE, Schirmer CM, Nogueira RG, Paul AR, Bohnstedt BN, Hendrix P.   +38 more
europepmc   +2 more sources

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Journal of Lipid Research, 2000
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase.
Peter Lohse, Sylke Maas, Pia Lohse, Milan Elleder, Jean M. Kirk, Guy T.N. Besley, Dietrich Seidel   +6 more
doaj   +1 more source

Tenecteplase Versus Alteplase for First-Pass Reperfusion in Basilar Artery Occlusion Stroke Thrombectomy. [PDF]

Ann Neurol
Objective The first‐pass effect (FPE), defined as excellent reperfusion after a single attempt, is associated with improved outcomes in large vessel occlusion stroke. We evaluated whether intravenous tenecteplase (TNK) compared with alteplase (TPA) increases the likelihood of FPE in basilar artery occlusion (BAO).
Wolman DN, Karamchandani RR, Hemmer S, Bielinski TM, Goyal N, Rhoten JB, Jayaraman MV, Sidebottom CT, Gross BA, Al-Bayati AR, Doheim MF, Tobin MK, Chinthala A, Gajjar A, Mascitelli J, Webb MR, Burkhardt JK, Scott KW, Srinivasan V, Tonetti D, Koneru M, Altschul DJ, Vaishnav D, Multani S, Theofanis T, Ares WJ, Sone JY, Zand R, Bahrami S, Li J, Defilipp G, Strong D, Torabi R, Moldovan K, Schirmer CM, Paul AR, Bohnstedt BN, Nogueira RG, Hendrix P.   +38 more
europepmc   +2 more sources

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Journal of Lipid Research, 1999
Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles.
Peter Lohse, Sylke Maas, Pia Lohse, Adrian C. Sewell, Otto P. van Diggelen, Dietrich Seidel   +5 more
doaj   +1 more source

Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease.

Journal of Lipid Research, 1996
Lysosomal acid lipase (LAL) is a hydrolase essential for the intracellular degradation of cholesteryl esters and triglycerides. We previously reported a rat model of Wolman's disease (Wolman rat) that is deficient for LAL activity.
H Nakagawa, S Matsubara, M Kuriyama, H Yoshidome, J Fujiyama, H Yoshida, M Osame   +6 more
doaj   +1 more source

A novel variant in the LIPA gene associated with distinct phenotype

Balkan Journal of Medical Genetics, 2023
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ...
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.   +7 more
doaj   +1 more source

Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease

Journal of Lipid Research, 2001
Wolman disease results from an inherited deficiency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins.
Oliver Zschenker, Nikola Jung, Julia Rethmeier, Sabine Trautwein, Stefanie Hertel, Marsha Zeigler, Detlev Ameis   +6 more
doaj   +1 more source

Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

Egyptian Journal of Medical Human Genetics, 2016
Background: Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life.
Solaf Elsayed, Ezzat Elsobky, Azza Tantawy, Eman Ragab, Marine Gil, Nathalie Lambert, Geneviève de Saint Basile   +6 more
doaj   +1 more source

Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2019
Background: Wolman disease (WD) severe lysosomal acid lipase is a rare, autosomal recessive lysosomal storage disease caused by the absence or deficiency of lysosomal acid lipase enzyme. This deficiency leads to the accumulation of cholesterol esters and
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi   +4 more
doaj   +1 more source

“Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study

Orphanet Journal of Rare Diseases, 2022
Background Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol.
S. Hassall, D. M. Smith, S. Rust, S. A. Jones, A. Wittkowski   +4 more
doaj   +1 more source