Results 11 to 20 of about 2,984,931 (176)

Mexican consensus on lysosomal acid lipase deficiency diagnosis

Revista de Gastroenterología de México (English Edition), 2018
Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations ...
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   +14 more
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A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency [PDF]

The Turkish Journal of Pediatrics, 2020
Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA ...
Berrak Bilginer Gürbüz, İlker Güney, Fatma Derya Bulut, Okan Dilek   +3 more
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Clinical guidelines for the management of children with lysosomal acid lipase deficiency

Педиатрическая фармакология, 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 storage ...
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   +32 more
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Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases

Лечащий Врач, 2022
Lysosomal acid lipase deficiency is a rare hereditary fermentopathy. Cholesterol ester accumulation disease – one of the two forms of lysosomal acid lipase deficiency – is a hereditary autosomal recessive lysosomal accumulation disease caused by ...
E. V. Savelieva, A. P. Pakhomov, A. A. Vyalkova, V. V. Tyrsin, I. V. Zorin, E. V. Azarova, A. I. Meshcheryakova   +6 more
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The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population [PDF]

Педиатрическая фармакология, 2018
Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the
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   +9 more
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Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children [PDF]

Медицинский совет, 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.
I. I. Pshenichnikova, I. N. Zakharova, E. V. Skorobogatova, T. I. Bocharova, Yu. V. Koba   +4 more
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Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

Annals of Hepatology, 2019
Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications.
Marlone Cunha-Silva, Daniel F.C. Mazo, Bárbara R. Corrêa, Tirzah M. Lopes, Raquel C. Arrelaro, Gabriel L. Ferreira, Marcello I. Rabello, Tiago Sevá-Pereira, Cecilia A.F. Escanhoela, Jazon R.S. Almeida   +9 more
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Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum [PDF]

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +2 more sources

Clinical Features of Lysosomal Acid Lipase Deficiency [PDF]

Journal of Pediatric Gastroenterology and Nutrition, 2015
The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained ...
Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Quinn, Anthony G, Santra, Saikat, Malinova, Vera, Burton, Barbara K, Mclin, Valérie Anne, Deegan, Patrick B, Lobritto, Steve J, Burton, Barbara K., Horslen, Simon, Sharma, Reena, Raiman, Julian, McLin, Valerie A., Di Rocco, Maja, Enns, Gregory M, Hovingh, Gerard K, Quinn, Anthony G., Whitley, Chester B, Sykut-Cegielska, Jolanta, Eckert, Stephen, Hovingh, Gerard K., Lobritto, Steve J., Valayannopoulos, Vassili, Whitley, Chester B.   +25 more
core   +7 more sources