Progressive macrophage accumulation in lysosomal acid lipase deficiency

by Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
Published 2020-06-01

Mexican consensus on lysosomal acid lipase deficiency diagnosis

by R. Vázquez-Frias, J.E. García-Ortiz, P.F. Valencia-Mayoral, G.E. Castro-Narro, P.G. Medina-Bravo, Y. Santillán-Hernández, J. Flores-Calderón, R. Mehta, C.A. Arellano-Valdés, L. Carbajal-Rodríguez, J.I. Navarrete-Martínez, M.L. Urbán-Reyes, M.T. Valadez-Reyes, F. Zárate-Mondragón, A. Consuelo-Sánchez
Published 2018-01-01

Frequency of lysosomal acid lipase deficiency in patients with primary hyperlipidemia

by Bahri Evren, yilmaz bilgic, Feyza Firat Atay, Ayse Nuransoy Cengiz, Yasir Furkan Cagin
Published 2019-06-01

Hepatitis E Virus Entry

by Xin Yin, Zongdi Feng
Published 2019-09-01

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

by Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
Published 2018-01-01

The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population

by Mikhail А. Fedyakov, Yuriy А. Barbitov, Elena A. Serebryakova, Тatiana M. Pervunina, Nikolay N. Vlasov, Еlena А. Kornienko, Аndrey S. Glotov, Аndrey М. Sarana, Sergey G. Shcherbak, Оleg S. Glotov
Published 2018-05-01

Choleteryl ester storage disease: A rare cause of adrenal calcifications in children

by Fatiha Benmiloud, Maria Rkain, A El Aouali, A Babakhouya, Noufissa Benajiba
Published 2020-01-01

Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

by Fahad Alabbas, Ghaleb Elyamany, Talal Alanzi, Tahani Bin Ali, Fatma Albatniji, Huda Alfaraidi
Published 2021-02-01

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

by Maria Zharkova, Tatiana  Nekrasova, Vladimir  Ivashkin, Marina  Maevskaya, Tatyana Strokova
Published 2019-12-01

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

by Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu
Published 2020-02-01

Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

by Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla
Published 2019-07-01

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

by Peter Lohse, Sylke Maas, Pia Lohse, Adrian C. Sewell, Otto P. van Diggelen, Dietrich Seidel
Published 1999-02-01

Lysosomal acid lipase deficiency – early diagnosis is the key

by Strebinger G, Müller E, Feldman A, Aigner E
Published 2019-05-01

Cholesteryl ester hydrolysis in J774 macrophages occurs in the cytoplasm and lysosomes

by Stewart J. Avart, David W. Bernard, W. Gray Jerome, Jane M. Glick
Published 1999-03-01

THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE

by S. A. Loskutova, T. V. Belousova, A. B. Nikulina
Published 2018-02-01

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

by Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Published 2019-08-01

Lysosomal acid lipase deficiency in a 6-year-old child: case report

by Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI
Published 2020-12-01

A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease

by Francesco Tovoli, Lucia Napoli, Giulia Negrini, Sergio D’Addato, Giulia Tozzi, Jessica D’Amico, Fabio Piscaglia, Luigi Bolondi
Published 2017-05-01

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia

by Nikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, Tatiana Strokova, Nikolay Vlasov, Andrej Surkov, Olga Gundobina, Kirill Savostianov
Published 2019-07-01

Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease[S]

by Francis Rajamohan, Allan R. Reyes, Meihua Tu, Nicole L. Nedoma, Lise R. Hoth, Adam G. Schwaid, Ravi G. Kurumbail, Jessica Ward, Seungil Han
Published 2020-08-01