Results 41 to 50 of about 2,984,931 (176)

Enzyme therapy for lysosomal acid lipase deficiency in the mouse [PDF]

Human Molecular Genetics, 2001
Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of the triglycerides (TG) and cholesteryl esters (CE) delivered to lysosomes. Its deficiency produces two human phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD).
H, Du, S, Schiavi, M, Levine, J, Mishra, M, Heur, G A, Grabowski   +5 more
openaire   +2 more sources

Lysosomal Acid Lipase Deficiency in pediatric patients: a scoping review

, 2020
The development of an enzyme replacement therapy with sebelipase alfa became the correct diagnosis of lisosomal acid lipase deficiency crucial for effective therapy and long-term survival.
Júlia Meller Dias de Oliveira, Graziela De Luca Canto, Camila Witeck, Andre Luis Porporatti, Anne Calbusch Schmitz, Maria Marlene de Souza Pires   +5 more
core   +1 more source

Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency.

, 2022
Introduction Lysosomal acid lipase deficiency is an autosomal recessive progressive lysosomal storage disease that mainly affects the liver, intestine growth, and causes dyslipidemia.
Ezgu, FATİH SÜHEYL
core   +1 more source

Lysosomal acid lipase deficiency - early diagnosis is the key. [PDF]

Hepat Med, 2019
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme activity. While the severe form manifests as a rapidly progressive disease with near universal mortality within the first 6 months of life, milder forms frequently go undiagnosed for prolonged ...
Strebinger G, Müller E, Feldman A, Aigner E.   +3 more
europepmc   +4 more sources

Clinical characteristics of children with lysosomal acid lipase deficiency

, 2022
Lysosomal acid lipase deficiency (LAL-D) is a rare hereditary disorder, caused by pathogenic variant in the LIPA gene. LAL-D is screened as a secondary disorder among other rare dyslipidemias exhibiting with hypercholesterolemia as part of the Slovenian ...
Sustar, U (via Mendeley Data)
core   +1 more source

Chlorination‐Driven BODIPY Fluorescent Probes for the Selective Monitoring of Myeloperoxidase Activity in Cells and Inflamed Mouse Models

Angewandte Chemie, EarlyView.
A meso‐carboxamide‐substituted BODIPY fluorescent probe reports myeloperoxidase (MPO) activity via electrophilic chlorination by MPO‐derived HOCl, generating a highly emissive chlorinated product with a ca. 40 nm bathochromic shift. Applications in quantitative MPO assays, cellular imaging of MPO‐derived HOCl, redox‐dependent discrimination of cancer ...
Siyoung Cho, Yongyang Luo, Jeehyeon Bae, Youngmi Kim   +3 more
wiley   +2 more sources

Case report: Wolman disease in four-month infant, with pathogenic variant G87V in the Jazan region, Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2019
Background: Wolman disease (WD) severe lysosomal acid lipase is a rare, autosomal recessive lysosomal storage disease caused by the absence or deficiency of lysosomal acid lipase enzyme. This deficiency leads to the accumulation of cholesterol esters and
Mansour J. Alwadani, Ahmed E. Shammakhi, Zainab Faraj, Magbol Maghfuri, Mohammed A. Mahnashi   +4 more
doaj   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

Molecular Genetics and Metabolism Reports, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in ...
Dominik Soll, Dominik Spira, Tim Hollstein, Linus Haberbosch, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Joachim Spranger, Ursula Kassner   +8 more
doaj   +1 more source

Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C

Residência Pediátrica, 2023
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and ...
Marcella Borges, Luissa Hikari Hayashi Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Pelicer Neto-Magalhães, João Paulo Cristofolo, João Paulo Freitas, Pedro Ivo Aranas, Jacqueline Harouche Rodrigues Fonseca, Fernanda Seabra Souza Timm, Charles Marques Lourenço   +11 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source