1-anilino-8-naphthalenesulfonate has been researched along with Lipid Metabolism, Inborn Error in 124 studies
1-anilino-8-naphthalenesulfonate: RN given refers to parent cpd
8-anilinonaphthalene-1-sulfonic acid : A naphthalenesulfonic acid that is naphthalene-1-sulfonic acid substituted by a phenylamino group at position 8.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Dorfman-Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs." | 1.32 | Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. ( Akiyama, M; Nomura, Y; Sawamura, D; Shimizu, H; Sugawara, M, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 58 (46.77) | 18.7374 |
| 1990's | 9 (7.26) | 18.2507 |
| 2000's | 17 (13.71) | 29.6817 |
| 2010's | 34 (27.42) | 24.3611 |
| 2020's | 6 (4.84) | 2.80 |
| Authors | Studies |
|---|---|
| Tian, Y | 1 |
| Wang, S | 1 |
| Wang, F | 1 |
| Yi, L | 1 |
| Dong, M | 1 |
| Huang, X | 1 |
| Yamada, K | 1 |
| Yaguchi, H | 1 |
| Abe, M | 1 |
| Ishikawa, K | 1 |
| Tanaka, D | 1 |
| Oshima, Y | 1 |
| Kudo, A | 1 |
| Uwatoko, H | 1 |
| Shirai, S | 1 |
| Takahashi-Iwata, I | 1 |
| Matsushima, M | 1 |
| Nishino, I | 2 |
| Yabe, I | 1 |
| Pegoraro, V | 1 |
| Missaglia, S | 6 |
| Marozzo, R | 1 |
| Tavian, D | 6 |
| Angelini, C | 3 |
| Puluca, N | 1 |
| Durmus, NG | 1 |
| Lee, S | 1 |
| Belbachir, N | 1 |
| Galdos, FX | 1 |
| Ogut, MG | 1 |
| Gupta, R | 1 |
| Hirano, KI | 1 |
| Krane, M | 1 |
| Lange, R | 1 |
| Wu, JC | 1 |
| Wu, SM | 1 |
| Demirci, U | 1 |
| Samukawa, M | 1 |
| Nakamura, N | 1 |
| Hirano, M | 2 |
| Morikawa, M | 1 |
| Sakata, H | 1 |
| Izumi, R | 2 |
| Suzuki, N | 1 |
| Kuroda, H | 2 |
| Shiga, K | 1 |
| Saigoh, K | 1 |
| Aoki, M | 2 |
| Kusunoki, S | 1 |
| Zuccarino, R | 1 |
| Anderson, DM | 1 |
| Holman, C | 1 |
| Feely, S | 1 |
| Gutmann, L | 2 |
| Castagnetta, M | 1 |
| Degiorgio, D | 1 |
| Pennisi, EM | 4 |
| Coleman, RA | 4 |
| Dell'Era, P | 1 |
| Mora, C | 1 |
| Coviello, DA | 1 |
| Arca, M | 5 |
| Bertini, E | 1 |
| Bruno, C | 3 |
| Cassandrini, D | 3 |
| D'amico, A | 1 |
| Garibaldi, M | 1 |
| Gragnani, F | 1 |
| Maggi, L | 2 |
| Massa, R | 2 |
| Morandi, L | 1 |
| Musumeci, O | 1 |
| Pegoraro, E | 1 |
| Rastelli, E | 2 |
| Santorelli, FM | 3 |
| Tasca, E | 1 |
| Toscano, A | 1 |
| Brown, AL | 1 |
| Mark Brown, J | 1 |
| Tan, J | 1 |
| Yang, H | 1 |
| Fan, J | 1 |
| Fan, Y | 1 |
| Xiao, F | 1 |
| Latimer, CS | 1 |
| Schleit, J | 1 |
| Reynolds, A | 1 |
| Marshall, DA | 1 |
| Podemski, B | 1 |
| Wang, LH | 1 |
| Gonzalez-Cuyar, LF | 1 |
| Zheng, S | 1 |
| Liao, W | 1 |
| Garcia, MA | 1 |
| Rojas, JA | 1 |
| Millán, SP | 1 |
| Flórez, AA | 1 |
| Ohno, Y | 1 |
| Nara, A | 1 |
| Nakamichi, S | 1 |
| Kihara, A | 1 |
| van de Weijer, T | 1 |
| Havekes, B | 1 |
| Bilet, L | 1 |
| Hoeks, J | 1 |
| Sparks, L | 1 |
| Bosma, M | 1 |
| Paglialunga, S | 1 |
| Jorgensen, J | 1 |
| Janssen, MC | 2 |
| Schaart, G | 1 |
| Sauerwein, H | 1 |
| Smeets, JL | 1 |
| Wildberger, J | 1 |
| Zechner, R | 4 |
| Schrauwen-Hinderling, VB | 1 |
| Hesselink, MK | 1 |
| Schrauwen, P | 1 |
| Natali, A | 2 |
| Gastaldelli, A | 1 |
| Camastra, S | 1 |
| Baldi, S | 1 |
| Quagliarini, F | 1 |
| Minicocci, I | 1 |
| Pennisi, E | 1 |
| Schrammel, A | 1 |
| Mussbacher, M | 1 |
| Winkler, S | 1 |
| Haemmerle, G | 2 |
| Stessel, H | 1 |
| Wölkart, G | 1 |
| Mayer, B | 1 |
| Perrin, L | 1 |
| Féasson, L | 1 |
| Furby, A | 1 |
| Laforêt, P | 1 |
| Petit, FM | 1 |
| Gautheron, V | 1 |
| Chabrier, S | 1 |
| Leança, CC | 1 |
| Nunes, VS | 1 |
| Panzoldo, NB | 1 |
| Zago, VS | 1 |
| Parra, ES | 1 |
| Cazita, PM | 1 |
| Jauhiainen, M | 1 |
| Passarelli, M | 1 |
| Nakandakare, ER | 1 |
| de Faria, EC | 1 |
| Quintão, EC | 2 |
| Vigna, GB | 1 |
| Satta, E | 1 |
| Bernini, F | 1 |
| Boarini, S | 1 |
| Bosi, C | 1 |
| Giusto, L | 1 |
| Pinotti, E | 1 |
| Tarugi, P | 1 |
| Vanini, A | 1 |
| Volpato, S | 1 |
| Zimetti, F | 1 |
| Zuliani, G | 1 |
| Favari, E | 1 |
| Kaneko, K | 1 |
| Tateyama, M | 1 |
| Kato, M | 1 |
| Sugimura, K | 1 |
| Sakata, Y | 1 |
| Ikeda, Y | 1 |
| Hirano, K | 1 |
| Dimauro, S | 2 |
| Bernardi, C | 1 |
| Akman, HO | 1 |
| Xu, C | 1 |
| Zhao, Y | 2 |
| Liu, J | 1 |
| Zhang, W | 1 |
| Wang, Z | 1 |
| Yuan, Y | 1 |
| Szabó, A | 1 |
| Xiao, X | 1 |
| Haughney, M | 1 |
| Spector, A | 1 |
| Sahin-Tóth, M | 1 |
| Lowe, ME | 1 |
| Xie, M | 1 |
| Roy, R | 1 |
| Rodríguez-García, ME | 1 |
| Martín-Hernández, E | 1 |
| de Aragón, AM | 1 |
| García-Silva, MT | 1 |
| Quijada-Fraile, P | 1 |
| Arenas, J | 1 |
| Martín, MA | 1 |
| Martínez-Azorín, F | 1 |
| Pozzessere, S | 1 |
| Serra, L | 1 |
| Terracciano, C | 1 |
| Gibellini, M | 1 |
| Bozzali, M | 1 |
| Muggenthaler, M | 1 |
| Petropoulou, E | 1 |
| Omer, S | 1 |
| Simpson, MA | 1 |
| Sahak, H | 1 |
| Rice, A | 1 |
| Raju, H | 1 |
| Conti, FJ | 1 |
| Bridges, LR | 1 |
| Anderson, LJ | 1 |
| Sharma, S | 1 |
| Behr, ER | 1 |
| Jamshidi, Y | 1 |
| Jousserand, G | 1 |
| Streichenberger, N | 1 |
| Petiot, P | 1 |
| Mora, M | 1 |
| Gibertini, S | 1 |
| Blasevich, F | 1 |
| Agostoni, P | 1 |
| Moro, L | 1 |
| Gerevini, S | 1 |
| Ghosh, AK | 1 |
| Ramakrishnan, G | 1 |
| Chandramohan, C | 1 |
| Rajasekharan, R | 1 |
| Yamaguchi, T | 1 |
| Osumi, T | 1 |
| Schweiger, M | 2 |
| Lass, A | 2 |
| Zimmermann, R | 3 |
| Eichmann, TO | 1 |
| Karuna, R | 2 |
| Holleboom, AG | 2 |
| Motazacker, MM | 2 |
| Kuivenhoven, JA | 2 |
| Frikke-Schmidt, R | 1 |
| Tybjaerg-Hansen, A | 1 |
| Georgopoulos, S | 1 |
| van Eck, M | 1 |
| van Berkel, TJ | 1 |
| von Eckardstein, A | 2 |
| Rentsch, KM | 2 |
| Reilich, P | 1 |
| Horvath, R | 1 |
| Krause, S | 1 |
| Schramm, N | 1 |
| Turnbull, DM | 1 |
| Trenell, M | 1 |
| Hollingsworth, KG | 1 |
| Gorman, GS | 1 |
| Hans, VH | 1 |
| Reimann, J | 1 |
| MacMillan, A | 1 |
| Turner, L | 1 |
| Schollen, A | 1 |
| Witte, G | 1 |
| Czermin, B | 1 |
| Holinski-Feder, E | 1 |
| Walter, MC | 1 |
| Schoser, B | 1 |
| Lochmüller, H | 1 |
| Park, R | 1 |
| Othman, A | 1 |
| Sutter, I | 1 |
| Rohrer, L | 1 |
| Matile, H | 1 |
| Hornemann, T | 1 |
| Stoffel, M | 1 |
| Péterfy, M | 1 |
| Lin, P | 1 |
| Li, W | 1 |
| Wen, B | 1 |
| Fenster, DS | 1 |
| Wang, Y | 1 |
| Gong, Y | 1 |
| Yan, C | 1 |
| Ash, DB | 1 |
| Papadimitriou, D | 1 |
| Hays, AP | 1 |
| Redaelli, C | 1 |
| Invernici, G | 1 |
| Wessalowski, R | 1 |
| Maiwald, R | 1 |
| Fiorillo, C | 1 |
| Brisca, G | 1 |
| Scapolan, S | 1 |
| Astrea, G | 1 |
| Valle, M | 1 |
| Scuderi, F | 1 |
| Trucco, F | 1 |
| Magnano, G | 1 |
| Gazzerro, E | 1 |
| Minetti, C | 1 |
| Plengpanich, W | 1 |
| Tongkobpetch, S | 1 |
| Shotelersuk, V | 1 |
| Le Goff, W | 1 |
| Khovidhunkit, W | 1 |
| van Engelen, B | 1 |
| Kapusta, L | 1 |
| Lammens, M | 1 |
| van Dijk, M | 1 |
| Fischer, J | 5 |
| van der Graaf, M | 1 |
| Wevers, RA | 1 |
| Fahrleitner, M | 1 |
| Morava, E | 1 |
| Akiyama, M | 2 |
| Sawamura, D | 2 |
| Nomura, Y | 1 |
| Sugawara, M | 1 |
| Shimizu, H | 2 |
| Srinivasan, R | 1 |
| Hadzić, N | 1 |
| Knisely, AS | 1 |
| Caux, F | 2 |
| Selma, ZB | 1 |
| Laroche, L | 2 |
| Prud'homme, JF | 1 |
| Schleinitz, N | 1 |
| Sanchez, A | 1 |
| Veit, V | 1 |
| Harle, JR | 1 |
| Pelissier, JF | 1 |
| Pujol, RM | 1 |
| Gilaberte, M | 1 |
| Toll, A | 1 |
| Florensa, L | 1 |
| Lloreta, J | 1 |
| González-Enseñat, MA | 1 |
| Azon, A | 1 |
| Solomon, C | 1 |
| Bernier, L | 1 |
| Germain, L | 1 |
| Dufour, R | 1 |
| Davignon, J | 1 |
| Yen, CL | 1 |
| Farese, RV | 1 |
| Riederer, M | 1 |
| Schoiswohl, G | 1 |
| Kienesberger, P | 1 |
| Strauss, JG | 1 |
| Gorkiewicz, G | 1 |
| Demerjian, M | 1 |
| Crumrine, DA | 1 |
| Milstone, LM | 1 |
| Williams, ML | 3 |
| Elias, PM | 1 |
| Ben Selma, Z | 1 |
| Yilmaz, S | 1 |
| Schischmanoff, PO | 1 |
| Blom, A | 1 |
| Ozogul, C | 1 |
| Sakai, K | 1 |
| Ogawa, M | 1 |
| McMillan, JR | 1 |
| Sasaki, J | 1 |
| Badeloe, S | 1 |
| van Geel, M | 1 |
| Nagtzaam, I | 1 |
| Rubio-Gozalbo, ME | 1 |
| Oei, RL | 1 |
| Steijlen, PM | 1 |
| van Steensel, MA | 1 |
| Negre, A | 8 |
| Salvayre, R | 8 |
| Vuillaume, M | 1 |
| Durand, P | 4 |
| Douste-Blazy, L | 7 |
| Figarella, C | 2 |
| De Caro, A | 2 |
| Leupold, D | 1 |
| Poley, JR | 1 |
| Niessen, KH | 1 |
| Paluszak, J | 1 |
| Verola, O | 1 |
| de Roquancourt, A | 1 |
| Chanu, B | 1 |
| Rouffy, J | 1 |
| Brocheriou, C | 1 |
| Lenoir, G | 1 |
| Schonfeld, G | 1 |
| Mortensen, PB | 1 |
| Burton, BK | 3 |
| Remy, WT | 1 |
| Rayman, L | 1 |
| Messieh, S | 1 |
| Clarke, JT | 1 |
| Cook, HW | 1 |
| Spence, MW | 1 |
| Ghishan, FK | 1 |
| Moran, JR | 1 |
| Durie, PR | 1 |
| Greene, HL | 1 |
| Reed, SP | 1 |
| Emery, D | 1 |
| Mueller, HW | 1 |
| Breckenridge, WC | 2 |
| Little, JA | 2 |
| Alaupovic, P | 1 |
| Wang, CS | 1 |
| Kuksis, A | 1 |
| Kakis, G | 1 |
| Lindgren, F | 1 |
| Gardiner, G | 1 |
| Howard, CP | 1 |
| Go, VL | 1 |
| Infante, AJ | 1 |
| Perrault, J | 1 |
| Gerich, JE | 1 |
| Haymond, MW | 1 |
| Muller, DP | 1 |
| Philippart, M | 1 |
| Borrone, C | 3 |
| Schaub, J | 1 |
| Janka, GE | 1 |
| Christomanou, H | 1 |
| Sandhoff, K | 1 |
| Permanetter, W | 1 |
| Hübner, G | 1 |
| Meister, P | 1 |
| Igal, RA | 1 |
| Knudsen, P | 1 |
| Antikainen, M | 1 |
| Ehnholm, S | 1 |
| Uusi-Oukari, M | 1 |
| Tenkanen, H | 1 |
| Lahdenperä, S | 1 |
| Kahri, J | 1 |
| Tilly-Kiesi, M | 1 |
| Bensadoun, A | 1 |
| Taskinen, MR | 1 |
| Ehnholm, C | 1 |
| Rouis, M | 1 |
| Dugi, KA | 1 |
| Previato, L | 1 |
| Patterson, AP | 1 |
| Brunzell, JD | 1 |
| Brewer, HB | 1 |
| Santamarina-Fojo, S | 1 |
| Igarashi, J | 1 |
| Shimizu, T | 1 |
| Yamashiro, Y | 1 |
| Hegele, RA | 1 |
| Cox, DW | 1 |
| Maguire, GF | 1 |
| Connelly, PW | 1 |
| Gibbons, GF | 1 |
| Islam, K | 1 |
| Pease, RJ | 1 |
| Cortner, JA | 2 |
| Coates, PM | 3 |
| Swoboda, E | 1 |
| Schnatz, JD | 1 |
| Ratzmann, KP | 1 |
| Mennuti, MT | 1 |
| Wheeler, JE | 1 |
| Goldstein, JL | 2 |
| Dana, SE | 1 |
| Faust, JR | 1 |
| Beaudet, AL | 4 |
| Brown, MS | 2 |
| Sobhani, MK | 1 |
| Brunschede, GY | 1 |
| Greten, H | 3 |
| DeGrella, R | 1 |
| Klose, G | 1 |
| Rascher, W | 1 |
| de Gennes, JL | 1 |
| Gjone, E | 1 |
| Galton, DJ | 1 |
| Clifton-Bligh, P | 1 |
| Reckless, JP | 1 |
| Sismanis, A | 1 |
| Polisar, IA | 1 |
| Ruffy, ML | 1 |
| Lambert, JC | 1 |
| Deprez, P | 1 |
| Bouvry, M | 1 |
| Bernier, JJ | 1 |
| Gautier, M | 1 |
| Lapous, D | 1 |
| Raulin, J | 1 |
| Ferry, GD | 3 |
| Nichols, BL | 2 |
| Rosenberg, HS | 1 |
| Ameis, D | 1 |
| Schotz, MC | 1 |
| Choluj, B | 1 |
| Placezk, D | 1 |
| Grunfeld, C | 2 |
| Radom, J | 3 |
| Maret, A | 3 |
| Vieu, C | 1 |
| Bes, JC | 1 |
| Monger, DJ | 1 |
| Rutherford, SL | 1 |
| Hincenbergs, M | 1 |
| Rehfeld, SJ | 1 |
| Beil, FU | 1 |
| Desai, PK | 1 |
| Astrin, KH | 1 |
| Thung, SN | 1 |
| Gordon, RE | 1 |
| Short, MP | 1 |
| Desnick, RJ | 1 |
| Tylki-Szymanska, A | 1 |
| Maciejko, D | 1 |
| Wozniewicz, B | 1 |
| Muszynska, B | 1 |
| Cagle, PT | 1 |
| Hawkins, EP | 1 |
| Dutton, RV | 1 |
| Calvert, GD | 1 |
| Abbey, M | 1 |
| Dagan, A | 2 |
| Gatt, S | 2 |
| Negre, AE | 1 |
| Salvayre, RS | 1 |
| Gompertz, D | 1 |
| Scanu, AM | 1 |
| Ritter, MC | 1 |
| Sloan, HR | 3 |
| Herfort, K | 1 |
| Skrha, F | 1 |
| Sobra, J | 1 |
| Heyrovsky, A | 1 |
| Fredrickson, DS | 2 |
| Ferrans, VJ | 1 |
| Demosky, SJ | 1 |
| Lipson, MH | 1 |
| Burke, JA | 2 |
| Schubert, WK | 2 |
| Verger, P | 1 |
| Babin, R | 1 |
| Guillard, JM | 1 |
| Babin, JP | 1 |
| Cixous, P | 1 |
| Laigle, JL | 1 |
| Szczepski, O | 1 |
| Mikolajczyk, J | 1 |
| Socha, J | 1 |
| Waligóra, A | 1 |
| Waligóra, Z | 1 |
| Brady, RO | 1 |
| O'Brien, JS | 1 |
| Bradley, RM | 1 |
| Gal, AE | 1 |
| Ricour, C | 1 |
| Rey, J | 2 |
| Townes, PL | 1 |
| Frezal, J | 1 |
| Royer, P | 1 |
| Lamy, M | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH[NCT03984149] | 1,000 participants (Anticipated) | Observational | 2017-09-01 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
24 reviews available for 1-anilino-8-naphthalenesulfonate and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
Topics: Frameshift Mutation; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Muscular Di | 2020 |
Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Animals; Energy Metabolism; Humans; Hydrolysis; Ichthy | 2017 |
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.
Topics: Cardiomyopathies; Coronary Angiography; Coronary Artery Disease; Genotyping Techniques; Humans; Lipa | 2014 |
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.
Topics: Adult; Cognition Disorders; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Muscular Diseases | 2016 |
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adipocytes; Carrier Proteins; Enzyme Activation; Fatty | 2009 |
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Animals; Humans; Lipase; Lipid Metabolism, Inborn Erro | 2009 |
Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.
Topics: Animals; Gene Expression Regulation; Humans; Lipase; Lipid Metabolism; Lipid Metabolism, Inborn Erro | 2012 |
[Familial hepatic lipase deficiency].
Topics: Adult; Aged; Female; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Middle Aged | 2007 |
[Diseases of the exocrine pancreas in infants and children. A review. 1. Organic pancreatic diseases].
Topics: Amino Acid Metabolism, Inborn Errors; Amylases; Child, Preschool; Cholecystokinin; Cystic Fibrosis; | 1980 |
[Triglyceride storage diseases].
Topics: Adenylyl Cyclases; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipolysis; Models, Biological; P | 1981 |
Disorders of lipid transport: relationship to abnormalities of apoproteins, enzymes and cellular receptors.
Topics: Abetalipoproteinemia; Apolipoproteins; Apoproteins; Female; Humans; Hyperlipoproteinemia Type III; H | 1984 |
Dicarboxylic acids and the lipid metabolism.
Topics: Acyl Coenzyme A; Animals; Carboxylic Acids; Carnitine O-Acetyltransferase; Coenzyme A; Dicarboxylic | 1984 |
Disorders of lipid absorption.
Topics: Abetalipoproteinemia; Abnormalities, Multiple; Bile Acids and Salts; Bile Ducts; Celiac Disease; Chi | 1982 |
Is reverse cholesterol transport a misnomer for suggesting its role in the prevention of atheroma formation?
Topics: Animals; Apolipoproteins; Arteriosclerosis; Biological Transport; Carrier Proteins; Cholesterol; Cho | 1995 |
[Congenital lipase deficiency].
Topics: Diagnosis, Differential; Humans; Lipase; Lipid Metabolism, Inborn Errors | 1998 |
Mobilisation of triacylglycerol stores.
Topics: Adipose Tissue; Animals; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipid Mobilization; Lipopr | 2000 |
[Lipid mobilization in obesity].
Topics: Adenylyl Cyclases; Adrenergic beta-Antagonists; Catecholamines; Cyclic AMP; Energy Metabolism; Enzym | 1977 |
Hepatic and plasma lipases.
Topics: Animals; Arteriosclerosis; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Live | 1992 |
Hyperlipidemia, dyslipoproteinemia and apolipoproteinopathia--classification and risk of atherosclerosis. Part 5: Normolipidemic (latent) dyslipoproteinemia.
Topics: Arteriosclerosis; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipids; Lipoprotein Lipase; Lipop | 1991 |
Lipase deficiencies.
Topics: Humans; Lipase; Lipid Metabolism, Inborn Errors | 1988 |
[Acid lipases and acid cholesterol esterases: Wolman's disease and cholesteryl ester storage disease].
Topics: Carboxylic Ester Hydrolases; Cholesterol Esters; Cytosol; Lipase; Lipid Metabolism, Inborn Errors; L | 1988 |
Plasma lipoproteins, apolipoproteins, and proteins concerned with lipid metabolism.
Topics: Animals; Apolipoproteins; Apolipoproteins A; Apolipoproteins B; Apolipoproteins C; Apolipoproteins D | 1985 |
The proteins of plasma lipoproteins: properties and significance.
Topics: Acyltransferases; Amino Acid Sequence; Amino Acids; Apoproteins; Cholesterol; Chromatography; Chroma | 1973 |
Affinity chromatography of enzymes hydrolyzing sphingolipids.
Topics: Chromatography, Affinity; Diagnosis, Differential; Gaucher Disease; Humans; Hydrolases; Hydrolysis; | 1973 |
100 other studies available for 1-anilino-8-naphthalenesulfonate and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy.
Topics: Acyltransferases; Cardiomyopathies; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipids; Muscle, | 2022 |
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Topics: Acyltransferases; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metabolism, Inborn E | 2023 |
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
Topics: Age of Onset; Biomarkers; Female; Humans; Lipase; Lipid Metabolism, Inborn Errors; Liver; Magnetic R | 2020 |
Levitating Cells to Sort the Fit and the Fat.
Topics: Cell Line; Humans; Induced Pluripotent Stem Cells; Lipase; Lipid Metabolism, Inborn Errors; Myocytes | 2020 |
Neutral lipid-storage disease with myopathy and Jordan anomaly.
Topics: Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Multienzyme Complexes; Muscular | 2020 |
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Topics: Cell Culture Techniques; Cell Differentiation; Fibroblasts; Humans; Lipase; Lipid Metabolism, Inborn | 2017 |
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cross-Sectional Studies; Female; Genetic Association Stu | 2017 |
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
Topics: Adult; Asian People; Biopsy; China; Female; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; | 2018 |
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
Topics: Adult; Female; Humans; Lipase; Lipid Metabolism, Inborn Errors; Muscle, Skeletal; Muscular Diseases; | 2018 |
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.
Topics: Base Sequence; Cardiomegaly; Cardiomyopathies; Child; Creatine Kinase; DNA Mutational Analysis; Earl | 2018 |
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis.
Topics: Delayed Diagnosis; Disease Progression; Female; Humans; Lipase; Lipid Metabolism, Inborn Errors; Mid | 2018 |
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Ceramides; Endoplasmic Reticulum; HEK293 Cells; HeLa C | 2018 |
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.
Topics: Adult; Alleles; Bezafibrate; Fatty Acids; Female; Humans; Hypolipidemic Agents; Lipase; Lipid Metabo | 2013 |
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy.
Topics: Adiposity; Adult; Blood Glucose; Body Composition; Body Mass Index; Female; Glucose; Glucose Clamp T | 2013 |
Cardiac oxidative stress in a mouse model of neutral lipid storage disease.
Topics: Animals; Blotting, Western; Disease Models, Animal; Ichthyosiform Erythroderma, Congenital; Lipase; | 2013 |
PNPLA2 mutation: a paediatric case with early onset but indolent course.
Topics: Biopsy; Child, Preschool; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metabolism, | 2013 |
Metabolism of plasma cholesterol and lipoprotein parameters are related to a higher degree of insulin sensitivity in high HDL-C healthy normal weight subjects.
Topics: Adult; Aged; Biomarkers; Brazil; Cholesterol Ester Transfer Proteins; Cholesterol, HDL; Cholesterol, | 2013 |
Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.
Topics: Adult; Aged; Ankle Brachial Index; Brachial Artery; Carotid Intima-Media Thickness; Case-Control Stu | 2014 |
A myopathy with unusual features caused by PNPLA2 gene mutations.
Topics: Aged; Biopsy; Female; Heterozygote; Humans; Lipase; Lipid Metabolism, Inborn Errors; Muscle, Skeleta | 2015 |
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A.
Topics: Adult; DNA Mutational Analysis; Humans; Lipase; Lipid Metabolism, Inborn Errors; Magnetic Resonance | 2015 |
A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.
Topics: Animals; Chaperonins; DNA-Binding Proteins; Endoplasmic Reticulum Stress; HEK293 Cells; Humans; Lipa | 2015 |
The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Amino Acid Sequence; Animals; Caenorhabditis elegans; | 2015 |
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Topics: Biological Transport; Brain Diseases, Metabolic, Inborn; Carboxylic Ester Hydrolases; Catalytic Doma | 2016 |
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
Topics: Cardiomyopathy, Dilated; Exome; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Muscular Dise | 2016 |
[Unusual phenotype of myopathy associated with a new PNPLA2 mutation].
Topics: Biopsy; Cardiomyopathies; Humans; Immunohistochemistry; Lipase; Lipid Metabolism, Inborn Errors; Lip | 2016 |
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Topics: Cardiomyopathies; Female; Humans; Lipase; Lipid Metabolism, Inborn Errors; Middle Aged; Muscles; Mus | 2017 |
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Acylation; Adipose Tissue, White; Animals; Esterases; | 2008 |
Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.
Topics: Adolescent; Adult; Aged; Animals; Apolipoprotein A-I; ATP Binding Cassette Transporter 1; ATP Bindin | 2011 |
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Topics: Adult; DNA Mutational Analysis; Female; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipi | 2011 |
Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism.
Topics: Analysis of Variance; Animals; Apolipoprotein A-I; Apolipoproteins; Apolipoproteins M; ATP Binding C | 2011 |
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
Topics: Adult; Asian People; Biopsy; DNA Mutational Analysis; Female; Genetic Association Studies; Humans; L | 2012 |
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.
Topics: Aged; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Muscle, Skeletal; Muscular Diseases; Mu | 2012 |
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Topics: Adult; Aged; Blotting, Western; Cardiomyopathies; Chromatography, Thin Layer; Female; Fibroblasts; H | 2012 |
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Topics: Adolescent; Amino Acid Sequence; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metab | 2013 |
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.
Topics: Aged; Cholesterol Ester Transfer Proteins; Female; Genetic Variation; Humans; Lipase; Lipid Metaboli | 2013 |
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Topics: Adolescent; Adult; Child; Child, Preschool; Family Health; Female; Heterozygote; Humans; Lipase; Lip | 2013 |
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adolescent; Epidermis; Esterases; Fluorescent Antibody | 2003 |
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Child; Esterases; Fatty Liver; Female; Hepatitis; Huma | 2004 |
CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Abnormalities, Multiple; Esterases; Genes, Recessive; | 2004 |
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adult; Age Factors; Biopsy, Needle; Esterases; Follow- | 2005 |
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Child, Preschool; Esterases; Humans; Ichthyosiform Ery | 2005 |
Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adult; Diagnosis, Differential; Diseases in Twins; Est | 2006 |
Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adipose Tissue; Animals; Enzyme Activation; Esterases; | 2006 |
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; 3T3-L1 Cells; Adipose Tissue; Animals; Carboxylic Este | 2006 |
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adult; Child; Epidermis; Esterases; Family Health; Fem | 2006 |
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Epidermis; Esterases; Female; Granulocytes; Heterozygo | 2007 |
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Topics: Adult; Biopsy; DNA Mutational Analysis; Female; Genetic Markers; Genetic Predisposition to Disease; | 2007 |
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Child; Consanguinity; Diagnosis, Differential; Hepatom | 2008 |
Acid lipase and carboxylesterases in EBV-transformed lymphoid cell line from Wolman's disease: influence of fatty acid structure of substrate.
Topics: Carboxylic Ester Hydrolases; Cell Line; Cell Transformation, Viral; Fatty Acids; Herpesvirus 4, Huma | 1984 |
Congenital pancreatic lipase deficiency.
Topics: Amylases; Child; Colipases; Diagnosis, Differential; Dietary Fats; Humans; Immunodiffusion; Lipase; | 1980 |
[Hepatic cholesterolosis. Histological, histochemical and ultrastructural study of 2 cases].
Topics: Cholesterol Esters; Female; Histocytochemistry; Humans; Lipase; Lipid Metabolism, Inborn Errors; Liv | 1983 |
Enzyme studies on Epstein-Barr virus-transformed lymphoid cell lines from Wolman's disease. Lipases, cholesterol esterase and 4-methylumbelliferyl acyl ester hydrolases.
Topics: B-Lymphocytes; Carboxylic Ester Hydrolases; Cell Line; Cell Transformation, Viral; Detergents; Herpe | 1984 |
Cholesterol ester and triglyceride metabolism in intact fibroblasts from patients with Wolman's disease and cholesterol ester storage disease.
Topics: Cell Line; Cholesterol Esters; Fibroblasts; Humans; Hydrolysis; Lipase; Lipid Metabolism, Inborn Err | 1984 |
Abnormal neutral lipase activity in acid-lipase-deficient cultured human fibroblasts.
Topics: Cells, Cultured; Cholesterol Esters; Fibroblasts; Humans; Hydrogen-Ion Concentration; Hydrolysis; Li | 1983 |
Isolated congenital lipase-colipase deficiency.
Topics: Child, Preschool; Colipases; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Pancreatic Funct | 1984 |
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.
Topics: Cells, Cultured; Cholesterol Esters; Cross Reactions; Fibroblasts; Humans; Immunodiffusion; Immunoel | 1981 |
Lysosomal acid lipase in cultivated fibroblasts: characterization of enzyme activity in normal and enzymatically deficient cell lines.
Topics: Cell Line; Cholesterol Esters; Fibroblasts; Heart; Humans; Hydrogen-Ion Concentration; Hymecromone; | 1980 |
Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.
Topics: Adult; Apolipoproteins; Cholesterol; Cholesterol Esters; Cholesterol, LDL; Cholesterol, VLDL; Female | 1982 |
Long-term survival in a case of functional pancreatic agenesis.
Topics: Diabetes Mellitus, Type 1; Humans; Hyperglycemia; Infant, Newborn; Islets of Langerhans; Lipase; Lip | 1980 |
Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome.
Topics: Child; Cholesterol Esters; Female; Humans; Kidney; Lipase; Lipid Metabolism; Lipid Metabolism, Inbor | 1982 |
Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.
Topics: Adrenal Glands; Bone Marrow; Female; Hepatomegaly; Humans; Infant; Leukocytes; Lipase; Lipid Metabol | 1980 |
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts.
Topics: Acylation; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Glycerides; Humans; Hydrolysis; Lipas | 1996 |
A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression.
Topics: Adult; Aged; Animals; Base Sequence; Case-Control Studies; Cell Line; Child; DNA, Complementary; Fem | 1996 |
Therapeutic response to medium-chain triglycerides and omega-3 fatty acids in a patient with the familial chylomicronemia syndrome.
Topics: Adipose Tissue; Child; Chylomicrons; Fatty Acids, Omega-3; Female; Gene Expression Regulation, Enzym | 1997 |
Elevated LDL triglyceride concentrations in subjects heterozygous for the hepatic lipase S267F variant.
Topics: Adult; Apolipoproteins; Biomarkers; Genetic Variation; Genotype; Heterozygote; Humans; Lipase; Lipid | 1998 |
Genetic variation of lysosomal acid lipase.
Topics: Cholesterol Esters; Electrophoresis; Female; Fibroblasts; Humans; Infant; Leukocytes; Lipase; Lipid | 1976 |
Prenatal diagnosis of Wolman disease.
Topics: Acetylglucosaminidase; Adrenal Glands; Adult; Amniocentesis; beta-Galactosidase; Cells, Cultured; Fe | 1978 |
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.
Topics: Cells, Cultured; Chloroquine; Cholesterol; Cholesterol Esters; Fatty Acids; Fibroblasts; Humans; Kin | 1975 |
Restoration of a regulatory response to low density lipoprotein in acid lipase-deficient human fibroblasts.
Topics: Binding Sites; Biological Transport, Active; Cells, Cultured; Cholesterol Esters; Fibroblasts; Homoz | 1976 |
Measurement of two plasma triglyceride lipases by an immunochemical method: studies in patients with hypertriglyceridemia.
Topics: Acyltransferases; Adolescent; Adult; Aged; Child; Chylomicrons; Female; Heparin; Humans; Hyperlipide | 1976 |
The hypertriglyceridaemias: a heterogeneous group of metabolic disorders.
Topics: Adipose Tissue; Diabetes Mellitus; Fasting; Glycerol; Humans; Insulin; Kinetics; Lipase; Lipid Metab | 1976 |
Rare congenital syndrome associated with profound hearing loss.
Topics: Abnormalities, Multiple; Child, Preschool; Deafness; Humans; Lipase; Lipid Metabolism, Inborn Errors | 1979 |
[A new case of congenital pancreatic lipase deficiency with presence of colipase (author's transl)].
Topics: Adult; Animals; Colipases; Duodenum; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Middle A | 1979 |
[Cholesterol ester storage disease in children. Comparative biochemistry of hepatocyte and fibroblast cultures].
Topics: Child; Cholesterol; Cholesterol Esters; Female; Fibroblasts; Humans; Lipase; Lipid Metabolism, Inbor | 1978 |
Cholesterol ester storage disease: clinical, biochemical, and pathological studies.
Topics: Child; Cholesterol; Cholesterol Esters; Female; Fibroblasts; Hepatomegaly; Histocytochemistry; Human | 1977 |
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism.
Topics: Acetates; Cells, Cultured; Genes, Recessive; Glycolipids; Humans; In Vitro Techniques; Lipase; Lipid | 1991 |
Metabolism of pyrenedecanoic acid in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and from a patient with multisystemic lipid storage myopathy.
Topics: Cell Line, Transformed; Decanoic Acids; Herpesvirus 4, Human; Humans; Lipase; Lipid Metabolism; Lipi | 1989 |
Lymphoid cell lines as a model system for the study of Wolman's disease: enzymatic, metabolic and ultrastructural investigations.
Topics: Cell Line; Cell Transformation, Viral; Cholesterol Esters; Herpesvirus 4, Human; Humans; Lipase; Lip | 1986 |
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts.
Topics: Fatty Acids; Fibroblasts; Humans; Ichthyosis; Lipase; Lipid Metabolism; Lipid Metabolism, Inborn Err | 1988 |
Cholesteryl ester storage disease: pathologic changes in an affected fetus.
Topics: Child; Cholesterol Esters; Duodenum; Female; Fetal Diseases; Humans; Lipase; Lipid Metabolism, Inbor | 1987 |
Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency.
Topics: Biopsy; Child; Child, Preschool; Cholesterol Esters; Conjunctiva; Female; Humans; Lipase; Lipid Meta | 1987 |
Extracellular origin of the lipid lysosomal storage in cultured fibroblasts from Wolman's disease.
Topics: Cells, Cultured; Fibroblasts; Humans; Kinetics; Lipase; Lipid Metabolism; Lipid Metabolism, Inborn E | 1987 |
Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD)
Topics: Adolescent; Anemia; Arteriosclerosis; Cholesterol Esters; Female; Humans; Hypertension, Pulmonary; K | 1986 |
[Wolman disease and cholesterol ester storage disease in adults. New means of study and diagnosis].
Topics: Cells, Cultured; Cholesterol Esters; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lymphocytes | 1986 |
Wolman's disease. Ultrasound and CT diagnosis.
Topics: Adrenal Glands; Diagnosis, Differential; Female; Humans; Infant; Lipase; Lipid Metabolism, Inborn Er | 1985 |
New spectrophotometric assays of acid lipase and their use in the diagnosis of Wolman and cholesteryl ester storage diseases.
Topics: Adult; Cells, Cultured; Cholesterol; Cholesterol Esters; Fibroblasts; Humans; Hydrogen-Ion Concentra | 1985 |
New fluorometric assay of lysosomal acid lipase and its application to the diagnosis of Wolman and cholesteryl ester storage diseases.
Topics: Cholesterol; Cholesterol Esters; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lysosomes; Spectro | 1985 |
The distribution of 17 carbon fatty acids in the liver of a child with propionicacidaemia.
Topics: Animals; Chemical Phenomena; Chemistry; Child; Cholesterol; Chromatography, Gas; Chromatography, Thi | 1971 |
[The exocrine pancreas in metabolic diseases].
Topics: Adult; Amylases; Blood Protein Disorders; Cholesterol; Diagnosis, Differential; Female; Humans; Inte | 1972 |
Cholesteryl ester storage disease: a most unusual manifestation of deficiency of two lysosomal enzyme activities.
Topics: Adolescent; Adult; Aorta; Arteriosclerosis; Autopsy; Carbon Isotopes; Child; Cholesterol; Coronary V | 1972 |
Acid lipase in cultured fibroblasts: cholesterol ester storage disease.
Topics: Amniotic Fluid; Carbon Radioisotopes; Cells, Cultured; Cholesterol; Esters; Female; Fibroblasts; Gly | 1974 |
Deficient activity of hepatic acid lipase in cholesterol ester storage disease.
Topics: Cholesterol; Colorimetry; Fatty Acids; Glycerol; Humans; Lipase; Lipid Metabolism, Inborn Errors; Li | 1972 |
Enzyme deficiency in cholesteryl ester storage idisease.
Topics: Adult; Aged; Aorta; Autopsy; Cholesterol; Chromatography, Thin Layer; Esterases; Esters; Gaucher Dis | 1972 |
Deficient activity of acid lipase in cholesterol-ester storage disease.
Topics: Cholesterol; Esters; Hepatomegaly; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipidoses; Liver | 1971 |
[Chronic steatorrhea in children due to a congenital insufficiency of pancreatic lipase].
Topics: Celiac Disease; Child; Diet Therapy; Humans; Lipase; Lipid Metabolism, Inborn Errors; Male; Pancreat | 1971 |
[Lipolytic enzymes in diabetes and simple obesity in children].
Topics: Adolescent; Body Height; Body Weight; Child; Cholesterol; Diabetes Mellitus; Esterases; Female; Huma | 1970 |
Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis.
Topics: Brain; Carbon Isotopes; Galactosidases; Gangliosides; Humans; Lipase; Lipid Metabolism; Lipid Metabo | 1970 |
Kinetics of fat hydrolysis and micellar solubilisation in bile and lipase deficiencies.
Topics: Bile; Bile Acids and Salts; Biliary Tract Diseases; Child, Preschool; Cystic Fibrosis; Fatty Acids, | 1971 |
Proteolytic and lipolytic deficiency of the exocrine pancreas.
Topics: Amylases; Anemia; Body Weight; Carboxypeptidases; Child, Preschool; Chronic Disease; Chymotrypsin; D | 1969 |
[Congenital absence of pancreatic lipase].
Topics: Child; Humans; In Vitro Techniques; Lipase; Lipid Metabolism, Inborn Errors; Malabsorption Syndromes | 1966 |