Results 41 to 50 of about 2,438 (157)

New lysosomal acid lipase gene mutants explain the phenotype ofWolman disease and cholesteryl ester storage disease

Journal of Lipid Research, 1998
Deficiency of lysosomal acid lipase (LAL) leads to either Wolman disease(WD) or the more benign cholesteryl ester storage disease (CESD). To identifythe molecular basis of the different phenotypes we have characterised the LALgene mutations in three new ...
Franco Pagani, Rajalakshmi Pariyarath, Rodolfo Garcia, Cristiana Stuani, Alberto B. Burlina, Giacomo Ruotolo, Marco Rabusin, Francisco E. Baralle   +7 more
doaj   +1 more source

Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease

Frontiers in Genetics, 2022
Lysosomal acid lipase (LAL), encoded by the gene LIPA, is the sole neutral lipid hydrolase in lysosomes, responsible for cleavage of cholesteryl esters and triglycerides into their component parts.
Katrina J. Besler, Valentin Blanchard, Gordon A. Francis   +2 more
doaj   +1 more source

Evidence‐Based Clinical Practice Guidelines for Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD) 2026

Hepatology Research, Volume 56, Issue 6, Page 887-902, June 2026.
ABSTRACT Metabolic dysfunction‐associated steatotic liver disease (MASLD) has emerged as the most prevalent chronic liver disease worldwide, with an increasing number of patients progressing to cirrhosis and hepatocellular carcinoma (HCC). Early identification of individuals at high risk for advanced fibrosis is essential for preventing liver‐related ...
Norio Akuta, Tomomi Kogiso, Kenichi Ikejima, Motoyuki Otsuka, Takumi Kawaguchi, Miwa Kawanaka, Hirokazu Takahashi, Nobuharu Tamaki, Hayato Nakagawa, Hayato Hikita, Hideki Fujii, Kanji Yamaguchi, Masato Yoneda, Kazuyoshi Kon, Akira Uchiyama, Yuya Seko, Sadatsugu Sakane, Ryuta Shigefuku, Naoto Fujiwara, Michihiro Iwaki, Takashi Kobayashi, Takuya Adachi, Yasuto Takeuchi, Tsubasa Tsutsumi, Dan Nakano, Kaoru Shibayama, Noriyo Urata, Hisamitsu Miyaaki, Hidekatsu Kuroda, Masahiro Koseki, Hirohito Sone, Yasuhiro Matsubayashi, Keisuke Kakisaka, Atsushi Takai, Kazuo Notsumata, Masataka Seike, Yoshiyuki Takei, Yoshifumi Takeyama, Susumu Eguchi, Sumio Watanabe, Hajime Isomoto, Hiroshi Yotsuyanagi, Takao Itoi, Tetsuo Takehara, Satoshi Mochida   +44 more
wiley   +1 more source

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

Egyptian Journal of Medical Human Genetics
Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues.
Rabab El Hawary, Safa Meshaal, Alia S. Eldash, Sohilla Lotfy, Dalia Abd Elaziz, Radwa Alkady, Rania Darwish, Aya Erfan, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M. Elmarsafy   +11 more
doaj   +1 more source

Lysosomal storage diseases: difficulties in differintial diagnosis

Фундаментальная и клиническая медицина, 2019
Inherited metabolic disorders represent a heterogeneous group of diseases which are difficult to be diagnosed in pediatric and therapeutic practice. Theirclinical symptoms are non-specific and common.
T. Y. Pomytkina, A. Y. Davydova
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

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
doaj   +1 more source

Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein

Journal of Lipid Research, 1996
Lysosomal acid lipase (LAL) is essential to the intracellular control of cholesterol and triglyceride catabolism via the low density lipoprotein (LDL) delivery of these neutral lipids to the lysosome.
H Du, D P Witte, G A Grabowski
doaj   +1 more source

How Robust is Eschrichtius robustus? A Novel Photographic Index of Body Condition From Boat‐Based Photographs of Gray Whales

Marine Mammal Science, Volume 42, Issue 1, January 2026.
ABSTRACT Although the eastern North Pacific gray whale (Eschrichtius robustus) population has recovered from population declines associated with whaling, they are closely monitored, especially in association with Unusual Mortality Events. Metrics to improve assessment of the health of individual animals, when averaged, are valuable to inform monitoring
Kira A. Telford, John Calambokidis, Kiirsten R. Flynn, Jasmine Witt, Alie Perez, John W. Durban, Holly Fearnbach, Erin L. Meyer‐Gutbrod   +7 more
wiley   +1 more source

Geomorphology of undercut streambank habitat

Earth Surface Processes and Landforms, Volume 50, Issue 14, November 2025.
The spatial distribution of undercut streambank habitat in gravel‐bed streams with riffle‐pool‐bar bedforms controls their frequency and geometry. The majority of and largest undercuts are formed in floodplain bank material, on the opposite side of the channel from gravel bars, adjacent to pools and large wood.
Joan L. Florsheim, Anne Chin, Benjamin Kozlowicz, John K. Wooster   +3 more
wiley   +1 more source