Results 21 to 30 of about 353 (110)

Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children

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
doaj   +1 more source

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review

Therapeutic Advances in Rare Disease, 2021
Background: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl ester storage disease in children ...
Aamir Bashir, Pramil Tiwari, Ajay Duseja
doaj   +1 more source

Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study

Gastroenterology Insights, 2023
Background: Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disease associated with the deregulation of lipid metabolism, leading to atherosclerosis, dyslipidemia, and hepatic steatosis, with potential progression to cirrhosis.
Aline Coelho Rocha Candolo, Guilherme Grossi Lopes Cançado, Patricia Momoyo Zitelli, Daniel Ferraz de Campos Mazo, Claudia Pinto Marques Oliveira, Marlone Cunha-Silva, Raquel Dias Greca, Roberta Chaves Araújo, Amanda Sacha Paulino Tolentino Alustau, Claudia Alves Couto, Mateus Jorge Nardelli, Roque Gabriel Rezende de Lima, Alberto Queiroz Farias, Flair José Carrilho, Mário Guimarães Pessôa   +14 more
doaj   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations. [PDF]

Clin Pharmacol Ther
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Grupstra RJ, Starokozhko V, Bakker E, Pasmooij AMG, Mol PGM.   +4 more
europepmc   +2 more sources

Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency [PDF]

Journal of Hepatology, 2014
Manisha Balwani, Gregory M Enns, Claude B. Sirlin   +2 more
exaly   +2 more sources

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry

Liver International, Volume 43, Issue 7, Page 1537-1547, July 2023., 2023
Abstract Background and Aims Lysosomal acid lipase deficiency (LAL‐D) is a rare, autosomal recessive disease involving lysosomal accumulation of cholesteryl esters and triglycerides. The International Lysosomal Acid Lipase Deficiency Registry (NCT01633489), established in 2013 to understand LAL‐D natural history and long‐term outcomes, is accessible to
Manisha Balwani, William Balistreri, Lorenzo D'Antiga, Jennifer Evans, Emilio Ros, Florian Abel, Don P. Wilson   +6 more
wiley   +1 more source

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2020
Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides.
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu   +2 more
doaj   +1 more source

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

American Journal of Medical Genetics Part A, Volume 185, Issue 11, Page 3350-3358, November 2021., 2021
Abstract From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects.
Hilary J. Vernon, Irini Manoli
wiley   +1 more source

Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations

Genome Medicine, 2022
We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders.
Nour Halabi, Sathishkumar Ramaswamy, Maha El Naofal, Alan Taylor, Sawsan Yaslam, Ruchi Jain, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Hamda Abulhoul, Shiva Shankar, Dalwinder Janjua, Devendrasing Jadhav, Munira Mahmoud Al Maazmi, Walid Abuhammour, Alawi Alsheikh-Ali, Mohamed Al Awadhi, Abdulla Al Khayat, Ahmad N. Abou Tayoun   +19 more
doaj   +1 more source