Results 61 to 70 of about 2,438 (157)

State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Continuous glucose monitoring (CGM) is increasingly used although not officially registered for the management of people living with liver glycogen storage diseases (GSDs). The aims of this study were twofold: (a) to investigate the current experiences of healthcare providers (HCPs), patients, and caregivers using CGM to monitor glucose ...
Terry G. J. Derks, Ruben J. Overduin, Sarah C. Grünert, Alessandro Rossi, CGM GSD Collaborators Group, Terry G. J. Derks, Ruben J. Overduin, Bibiana M. de Oliveira, Julien H. Park, David Weinstein, Diva D. De Leon, Yuval E. Landau, Alessandro La Rosa, Damian Cohen, Anke Schumann, Anne Kwok Mei Kwun, Yunkoo Kang, Foekje de Boer, María Clemente, Wendy E. Smith, Margo Sheck Breilyn, Rebecca Riba‐Wolman, Karen Loechner, Malaya Mount, John Mitchell, Samantha Vergano, Stefanie Rosenbaum‐Fabian, Shaylee King, Iris Ferrecchia, Kaustuv Bhattacharya, David F. Rodriguez‐Buritica, Katalin Ross, Anastasia Skouma, Allan M. Lund, Elizabeth Robinson, Caitie Hessenthaler, Emma Corcoran, Tassia Tonon, Daniela Karall, Laura Sliwoski, Ulrike Steuerwald, Patricia Pérez Mohand, Julieta Bonvin Sallago, Nerea López Maldonado, Renee Bethel, Monica Boyer, Timothy Fazio, Vincenza Gragnaniello, María‐Luz Couce, Chiara Falanga, Urh Groselj, Brandy Rawls‐Castillo, Zazil Olivares‐Sandoval, Carolina F. Moura de Souza, Sabine Scholl‐Buergi, Annalisa Madeo, Julia B. Hennermann, Eva Venegas, Arianna Maiorana, Dorothea Haas, Benjamin Weil, Eva Thimm, Alboren Shtylla, Thomas Opladen, Thomas Scherer, Danielle K. Bourque, Tergita Preci, Michel Hochuli, Thomas Casswall, Ellen Crushell, Shagun Kaur, Petra Zsidegh, Risto Lapatto, Matthias Gautschi, Dorothea Möslinger, Peter Witters, Ute Stachelhaus‐Theimer, Flannery Tomberlin, Ana Drole Torkar, Elena Procopio, Luisa Diogo Matos, Saskia Wortmann, Julia Neugebauer, Teresa Rink, Natalie Weinhold, Suresh Vijay, Krista Engen, Jean‐Marc Nuoffer, Andrea Haijer‐Schreuder, Peter Freisinger, Monika Williams, Patricia Janeiro, Justė Parnarauskienė, Çiğdem Seher Kasapkara, Miguel Angel Martinez Olmos, Areeg El‐Gharbawy, Heather Saavedra, Nicola Longo, Magali Reyes Apodaca, Sunita Bijarnia‐Mahay, Leyla Tümer, Martina Huemer, René Santer, Lina Ghaloul‐Gonzalez, Katherine Anderson, Rebecca L. Koch, Christian Kogelmann, Annamaria Sapuppo, Brian Shayota, Melanie M. van der Klauw, Fatih Ezgu, Clemens Kamrath, Camilla Carøe, Karolina M. Stepien, Fiona White, Sarah C. Grünert, Alessandro Rossi   +116 more
wiley   +1 more source

Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the LIPA Gene in the Risk Group Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии
Aim: to study the prevalence of lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease) among high-risk patients using selective biochemical screening.Material and methods. Samples from 2805 patients are collected as dried
S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan   +4 more
doaj   +1 more source

Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations

Journal of Lipid Research, 2011
Lipoprotein cholesterol taken up by cells is processed in the endosomal/lysosomal (E/L) compartment by the sequential action of lysosomal acid lipase (LAL), Niemann-Pick C2 (NPC2), and Niemann-Pick C1 (NPC1).
Charina M. Ramirez, Benny Liu, Amal Aqul, Anna M. Taylor, Joyce J. Repa, Stephen D. Turley, John M. Dietschy   +6 more
doaj   +1 more source

Wolman's disease in an infant [PDF]

British Journal of Haematology, 2003
Martin, Browne, Gino, Somers, Helen, Savoia, Renata, Kukuruzovic   +3 more
openaire   +2 more sources

Early steps in steroidogenesis: intracellular cholesterol trafficking

Journal of Lipid Research, 2011
Steroid hormones are made from cholesterol, primarily derived from lipoproteins that enter cells via receptor-mediated endocytosis. In endo-lysosomes, cholesterol is released from cholesterol esters by lysosomal acid lipase (LAL; disordered in Wolman ...
Walter L. Miller, Himangshu S. Bose
doaj   +1 more source

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

Orphanet Journal of Rare Diseases, 2019
Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease.
Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu   +7 more
doaj   +1 more source

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease. [PDF]

J Mol Neurosci, 2023
Elaraby NM, Galal ER, Abdel-Hamid M, Elbendary HM, Elbadry M, Mekkawy MK, Ashaat NA, Mounir SM, Ashaat EA.   +8 more
europepmc   +1 more source

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia

JIMD Reports, 2019
Laboratory diagnostics of lysosomal acid lipase deficiency (LAL‐D), a rare disorder associated with LIPA alterations, are based on the evaluation of LAL activity.
Nikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, Tatiana Strokova, Nikolay Vlasov, Andrej Surkov, Olga Gundobina, Kirill Savostianov   +7 more
doaj   +1 more source

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa

The Application of Clinical Genetics, 2016
Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland Metabolic Unit, Salford Royal Hospital NHS Foundation Trust, Salford, UK Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of ...
Su K, Donaldson E, Sharma R
doaj  

Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease. [PDF]

Indian J Hematol Blood Transfus, 2021
Bartakke S, Nisal A, Bafna V, Valecha A.
europepmc   +1 more source