Zobrazeno 1 - 10
of 544
pro vyhledávání: '"lysosomal acid lipase deficiency"'
Autor:
Ivan Bradić, Nemanja Vujić, Katharina B. Kuentzel, Hansjörg Habisch, Anita Pirchheim, Alena Akhmetshina, John D. Henderson, Tobias Madl, Atul S. Deshmukh, Dagmar Kratky
Publikováno v:
Gastro Hep Advances, Vol 3, Iss 6, Pp 711-723 (2024)
Background and Aims: Recent studies showed that patients suffering from lysosomal acid lipase deficiency (LAL-D) benefit from enzyme replacement therapy; however, liver histopathology improved in some but not all patients. We hypothesized that the pa
Externí odkaz:
https://doaj.org/article/3e7a6a2f5f9348cc9a94f0aba394ad76
Autor:
Karina Lucio de Medeiros Bastos, Bruno de Oliveira Stephan, Bianca Domit Werner Linnenkamp, Larissa Athayde Costa, Fabiana Roberto Lima, Laura Machado Lara Carvalho, Rachel Sayuri Honjo, Uenis Tannuri, Ana Cristina Aoun Tannuri, Chong Ae Kim
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8648 (2024)
Lysosomal acid lipase deficiency (LALD) varies from a severe infantile-onset form (Wolman disease) to a late-onset form known as cholesteryl ester storage disease (CESD), both of which are autosomal recessive disorders caused by biallelic LIPA pathog
Externí odkaz:
https://doaj.org/article/e5ee1d8a14194daf92c245c4f5b7392e
Autor:
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 337-354 (2023)
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester stora
Externí odkaz:
https://doaj.org/article/bbadc6c645734812b65cf6da590af630
Autor:
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 93-100 (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
Externí odkaz:
https://doaj.org/article/625562bf626b47c18182937dd6ebe100
Publikováno v:
JACC: Case Reports, Vol 24, Iss , Pp 102023- (2023)
Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the
Externí odkaz:
https://doaj.org/article/a82c4c116983477682a15bf4d99de096
Autor:
Indira Jayakumar, Anupama Gude, Murarji Renangi, Soundaram Valliyappan, Venkateswaran Vellaichamy Swaminathan, Satishkumar Meena, Harika Varla, Rumesh Chandar, Ramya Uppuluri, Revathi Raj
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 1, Pp 1-3 (2023)
Introduction: Wolman disease is a rare genetic disorder with an autosomal recessive inheritance. A mutation in the LIPA gene causes lysosomal acid lipase (LAL) deficiency results in lipid storage and adrenal insufficiency. Death in early infancy is d
Externí odkaz:
https://doaj.org/article/6624a6b295be452cb797988f6e6db6e1
Akademický článek
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Publikováno v:
Медицинский совет, Vol 0, Iss 1, Pp 250-255 (2022)
Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, autosomal recessive disease, which develops due to impaired degradation and subsequent intra-lysosomal accumulation of triglycerides and cholesterol esters causing dyslipidemia. The cli
Externí odkaz:
https://doaj.org/article/bbac0c372dcc4709bd27aa446815d220
Autor:
Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires
Publikováno v:
Jornal de Pediatria, Vol 98, Iss 1, Pp 4-14 (2022)
Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of t
Externí odkaz:
https://doaj.org/article/c79ef6d430c3418fadbd31c849679197
Autor:
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of a
Externí odkaz:
https://doaj.org/article/a789869fae7343719234174d01ea84b9