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Items: 1 to 20 of 181

1.
Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review
Aamir Bashir, Pramil Tiwari, Ajay Duseja
Ther Adv Rare Dis. 2021 Jan-Dec; 2: 26330040211026928. Published online 2021 Jul 18. doi: 10.1177/26330040211026928
PMCID:
PMC10032452
ArticlePubReaderPDF–1.7MCite
2.
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
Ryuichi Mashima, Shuji Takada
Int J Mol Sci. 2022 Dec; 23(24): 15549. Published online 2022 Dec 8. doi: 10.3390/ijms232415549
PMCID:
PMC9779616
ArticlePubReaderPDF–325KCite
3.
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots
Xinying Hong, Yicheng Chen, Marianne Barr, Michael H. Gelb
Mol Genet Metab Rep. 2022 Dec; 33: 100935. Published online 2022 Nov 10. doi: 10.1016/j.ymgmr.2022.100935
PMCID:
PMC9664517
ArticlePubReaderPDF–442KCite
4.
Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease
Katrina J. Besler, Valentin Blanchard, Gordon A. Francis
Front Genet. 2022; 13: 1013266. Published online 2022 Sep 20. doi: 10.3389/fgene.2022.1013266
PMCID:
PMC9530988
ArticlePubReaderPDF–1.3MCite
5.
Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
Antoine Cossette, Julie Castilloux, Chantal Bouffard, Julie Laflamme, Christophe Faure, Sami Benlamlih, Florian Abel, Michael Beecroft, Mira Francis, Régen Drouin
Can Liver J. August 2022; 5(3): 428–434. Prepublished online 2022 Jul 5. Published online 2022 Aug 16. doi: 10.3138/canlivj-2021-0041
PMCID:
PMC9473556
ArticlePubReaderPDF–1.3MCite
6.
15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report
Marlone Cunha-Silva, Eloy Vianey Carvalho de França, Clauber Teles Veiga, Raquel Dias Greca, Priscilla Brito Sena de Moraes, Daniel Ferraz de Campos Mazo, Elaine Cristina de Ataíde, Simone Reges Perales, Leonardo Trevizan Monici, Tiago Sevá-Pereira
Medicine (Baltimore) 2022 Sep 2; 101(35): e30315. Published online 2022 Sep 2. doi: 10.1097/MD.0000000000030315
PMCID:
PMC9439781
ArticlePubReaderPDF–567KCite
7.
Lysosomal acid lipase deficiency in pediatric patients: a scoping review
Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires
J Pediatr (Rio J) 2022 Jan-Feb; 98(1): 4–14. Published online 2021 May 6. doi: 10.1016/j.jped.2021.03.003
PMCID:
PMC9432115
ArticlePubReaderPDF–673KCite
8.
Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency
Patricia Lam, Anna Ashbrook, Deborah A. Zygmunt, Cong Yan, Hong Du, Paul T. Martin
Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 413–426. Published online 2022 Aug 4. doi: 10.1016/j.omtm.2022.08.001
PMCID:
PMC9403906
ArticlePubReaderPDF–4.9MCite
9.
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
Front Genet. 2022; 13: 936121. Published online 2022 Jul 12. doi: 10.3389/fgene.2022.936121
PMCID:
PMC9314654
ArticlePubReaderPDF–1.3MCite
10.
“Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study
S. Hassall, D. M. Smith, S. Rust, S. A. Jones, A. Wittkowski
Orphanet J Rare Dis. 2022; 17: 193. Published online 2022 May 12. doi: 10.1186/s13023-022-02335-4
PMCID:
PMC9097427
ArticlePubReaderPDF–1.3MCite
11.
Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency
Somashekara H. Ramakrishna, Mohan B. Kasala, Karnan Perumal, Selvakumar Malleeswaran, Rajanikanth V. Patcha, Joy Varghese
J Clin Exp Hepatol. 2022 Mar-Apr; 12(2): 672–676. Published online 2021 Jul 6. doi: 10.1016/j.jceh.2021.06.022
PMCID:
PMC9077196
ArticlePubReaderPDF–798KCite
12.
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights
Gerarda Cappuccio, Taraka R. Donti, Leroy Hubert, Qin Sun, Sarah H. Elsea
J Inherit Metab Dis. Author manuscript; available in PMC 2021 Nov 3.
Published in final edited form as: J Inherit Metab Dis. 2019 May; 42(3): 509–518. Published online 2019 Mar 5. doi: 10.1002/jimd.12057
PMCID:
PMC8564860
ArticlePubReaderPDF–609KCite
13.
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
Joseph J. Shen, Jessica L. Davis, Xinying Hong, Fred H. Laningham, Michael H. Gelb, Grace E. Kim
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2021 Dec 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2020 Dec; 71(6): 726–730. doi: 10.1097/MPG.0000000000002870
PMCID:
PMC8045466
ArticlePubReaderPDF–1.9MCite
14.
The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children
Michelle Saad, Sabeen Syed
ACG Case Rep J. 2021 Jan; 8(1): e00516. Published online 2021 Jan 13. doi: 10.14309/crj.0000000000000516
PMCID:
PMC7808463
ArticlePubReaderPDF–161KCite
15.
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Orphanet J Rare Dis. 2021; 16: 13. Published online 2021 Jan 6. doi: 10.1186/s13023-020-01577-4
Correction in:
Orphanet J Rare Dis. 2021; 16: 113.
PMCID:
PMC7789691
ArticlePubReaderPDF–1.1MCite
16.
Recent insights into lysosomal acid lipase deficiency
Melanie Korbelius, Katharina B. Kuentzel, Ivan Bradić, Nemanja Vujić, Dagmar Kratky
Trends Mol Med. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Trends Mol Med. 2023 Jun 1; 29(6): 425–438. Published online 2023 Apr 5. doi: 10.1016/j.molmed.2023.03.001
PMCID:
PMC7614602
ArticlePubReaderPDF–1.6MCite
17.
Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study
Vĕra Malinová, Manisha Balwani, Reena Sharma, Jean‐Baptiste Arnoux, John Kane, Chester B. Whitley, Sachin Marulkar, Florian Abel
Liver Int. 2020 Sep; 40(9): 2203–2214. Published online 2020 Aug 9. doi: 10.1111/liv.14603
PMCID:
PMC7540377
ArticlePubReaderPDF–913KCite
18.
Progressive macrophage accumulation in lysosomal acid lipase deficiency
Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
Mol Genet Metab Rep. 2020 Jun; 23: 100594. Published online 2020 May 1. doi: 10.1016/j.ymgmr.2020.100594
PMCID:
PMC7201182
ArticlePubReaderPDF–4.5MCite
19.
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu
Orphanet J Rare Dis. 2020; 15: 58. Published online 2020 Feb 24. doi: 10.1186/s13023-020-1328-6
PMCID:
PMC7041253
ArticlePubReaderPDF–894KCite
20.
Lysosomal Acid Lipase Deficiency: Therapeutic Options
Gregory M Pastores, Derralynn A Hughes
Drug Des Devel Ther. 2020; 14: 591–601. Published online 2020 Feb 11. doi: 10.2147/DDDT.S149264
PMCID:
PMC7023879
ArticlePubReaderPDF–327KCite

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