1-anilino-8-naphthalenesulfonate has been researched along with Cholesterol Ester Storage Disease in 36 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.
Cholesterol Ester Storage Disease: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We confirmed accumulation of glycogen and lipids, particularly cholesterol esters, in the liver of a patient with cholesterol ester storage disease (CESD)." | 3.70 | Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. ( Imai, K; Matsumoto, K; Okuyama, T; Shimizu, M; Tashiro, Y; Todoroki, T; Watanabe, K, 2000) |
| "The fatal infantile phenotype (Wolman's disease) with generalized storage of both types of apolar lipids." | 1.30 | [Lysosomal acid lipase deficiency. Overview of Czech patients]. ( Chlumská, A; Elleder, M; Hyánek, J; Ledvinová, J; Lohse, P; Poupĕtová, H; Stozický, F; Sýkora, J; Zeman, J, 1999) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (5.56) | 18.7374 |
| 1990's | 23 (63.89) | 18.2507 |
| 2000's | 7 (19.44) | 29.6817 |
| 2010's | 3 (8.33) | 24.3611 |
| 2020's | 1 (2.78) | 2.80 |
| Authors | Studies |
|---|---|
| Tebani, A | 1 |
| Sudrié-Arnaud, B | 1 |
| Boudabous, H | 1 |
| Brassier, A | 1 |
| Anty, R | 1 |
| Snanoudj, S | 1 |
| Abergel, A | 1 |
| Abi Warde, MT | 1 |
| Bardou-Jacquet, E | 1 |
| Belbouab, R | 1 |
| Blanchet, E | 1 |
| Borderon, C | 1 |
| Bronowicki, JP | 1 |
| Cariou, B | 1 |
| Carette, C | 1 |
| Dabbas, M | 1 |
| Dranguet, H | 1 |
| de Ledinghen, V | 1 |
| Ferrières, J | 1 |
| Guillaume, M | 1 |
| Krempf, M | 1 |
| Lacaille, F | 1 |
| Larrey, D | 1 |
| Leroy, V | 1 |
| Musikas, M | 1 |
| Nguyen-Khac, E | 1 |
| Ouzan, D | 1 |
| Perarnau, JM | 1 |
| Pilon, C | 1 |
| Ratzlu, V | 1 |
| Thebaut, A | 1 |
| Thevenot, T | 1 |
| Tragin, I | 1 |
| Triolo, V | 1 |
| Vergès, B | 1 |
| Vergnaud, S | 1 |
| Bekri, S | 1 |
| Civallero, G | 1 |
| De Mari, J | 1 |
| Bittar, C | 1 |
| Burin, M | 1 |
| Giugliani, R | 1 |
| Tylki-Szymańska, A | 1 |
| Jurecka, A | 1 |
| Burton, BK | 1 |
| Deegan, PB | 1 |
| Enns, GM | 1 |
| Guardamagna, O | 1 |
| Horslen, S | 1 |
| Hovingh, GK | 1 |
| Lobritto, SJ | 1 |
| Malinova, V | 1 |
| McLin, VA | 1 |
| Raiman, J | 1 |
| Di Rocco, M | 1 |
| Santra, S | 1 |
| Sharma, R | 1 |
| Sykut-Cegielska, J | 1 |
| Whitley, CB | 1 |
| Eckert, S | 1 |
| Valayannopoulos, V | 1 |
| Quinn, AG | 1 |
| Boldrini, R | 1 |
| Devito, R | 1 |
| Biselli, R | 1 |
| Filocamo, M | 1 |
| Bosman, C | 1 |
| Du, H | 6 |
| Levine, M | 2 |
| Ganesa, C | 1 |
| Witte, DP | 3 |
| Cole, ES | 1 |
| Grabowski, GA | 6 |
| Ameis, D | 3 |
| Brockmann, G | 1 |
| Knoblich, R | 1 |
| Merkel, M | 1 |
| Ostlund, RE | 1 |
| Yang, JW | 1 |
| Coates, PM | 1 |
| Cortner, JA | 1 |
| Feinman, SV | 1 |
| Greten, H | 3 |
| Muntoni, S | 3 |
| Wiebusch, H | 3 |
| Funke, H | 3 |
| Ros, E | 1 |
| Seedorf, U | 3 |
| Assmann, G | 3 |
| Christensen, NC | 1 |
| Skovby, F | 1 |
| Nickel, V | 1 |
| Roskos, M | 1 |
| Ose, L | 1 |
| Pagani, F | 3 |
| Zagato, L | 1 |
| Merati, G | 1 |
| Paone, G | 2 |
| Gridelli, B | 2 |
| Maier, JA | 1 |
| Klima, H | 2 |
| Ullrich, K | 1 |
| Aslanidis, C | 5 |
| Fehringer, P | 3 |
| Lackner, KJ | 1 |
| Schmitz, G | 5 |
| Tanaka, A | 3 |
| Ries, S | 2 |
| Büchler, C | 2 |
| Becker, A | 1 |
| Garcia, R | 2 |
| Pariyarath, R | 2 |
| Stuani, C | 2 |
| Baralle, FE | 2 |
| Lu, F | 1 |
| Oberle, S | 1 |
| Schwarzer, U | 1 |
| Gasche, C | 2 |
| Kain, R | 1 |
| Exner, M | 1 |
| Helbich, T | 1 |
| Dejaco, C | 1 |
| Ferenci, P | 1 |
| Redonnet-Vernhet, I | 2 |
| Chatelut, M | 2 |
| Basile, JP | 1 |
| Salvayre, R | 2 |
| Levade, T | 2 |
| Schindler, G | 1 |
| Jung, N | 1 |
| Schambach, A | 1 |
| Vanier, MT | 1 |
| Belli, DC | 1 |
| Burlina, AB | 1 |
| Ruotolo, G | 1 |
| Rabusin, M | 1 |
| Duanmu, M | 2 |
| Witte, D | 1 |
| Sheriff, S | 1 |
| Bezerra, J | 1 |
| Leonova, T | 1 |
| vom Dahl, S | 1 |
| Harzer, K | 1 |
| Rolfs, A | 1 |
| Albrecht, B | 1 |
| Niederau, C | 1 |
| Vogt, C | 1 |
| van Weely, S | 1 |
| Aerts, J | 1 |
| Müller, G | 1 |
| Häussinger, D | 1 |
| Anderson, RA | 1 |
| Bryson, GM | 1 |
| Parks, JS | 1 |
| Elleder, M | 2 |
| Chlumska, A | 2 |
| Ledvinová, J | 2 |
| Poupetová, H | 2 |
| Todoroki, T | 1 |
| Matsumoto, K | 1 |
| Watanabe, K | 1 |
| Tashiro, Y | 1 |
| Shimizu, M | 1 |
| Okuyama, T | 1 |
| Imai, K | 1 |
| Hyánek, J | 1 |
| Zeman, J | 1 |
| Sýkora, J | 1 |
| Stozický, F | 1 |
| Lohse, P | 1 |
| Heur, M | 2 |
| Hui, DY | 1 |
| Mishra, J | 2 |
| Schiavi, S | 1 |
| Nègre, A | 1 |
| Dagan, A | 1 |
| Gatt, S | 1 |
| Piskorska, D | 1 |
| Kopieczna-Grzebieniak, E | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype[NCT01528917] | 49 participants (Actual) | Observational | 2011-06-30 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
7 reviews available for 1-anilino-8-naphthalenesulfonate and Cholesterol Ester Storage Disease
| Article | Year |
|---|---|
Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Humans; Lipase; Liver Function Tests; Wolman | 2014 |
[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Humans; Infant; Lipase; Lysosomes; Mutation; | 1995 |
ACAT/CEH and ACEH/LAL: two key enzymes in hepatic cellular cholesterol homeostasis and their involvement in genetic disorders.
Topics: Arteriosclerosis; Cholesterol; Cholesterol Ester Storage Disease; DNA Mutational Analysis; Humans; L | 1996 |
[Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Diagnosis, Differential; Humans; Lipase; Lyso | 1998 |
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
Topics: Animals; Baculoviridae; Cell Line; Cells, Cultured; Child; Child, Preschool; Cholesterol Ester Stora | 1998 |
[Wolman disease and cholesteryl ester storage disease].
Topics: Animals; Cholesterol Ester Storage Disease; Cholesterol Esters; Diagnosis, Differential; Humans; Lip | 2001 |
[The role and mechanism of lysosomal acid lipase activity].
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Humans; Lipase; Lipoproteins, LDL; Lysosomes; | 1988 |
29 other studies available for 1-anilino-8-naphthalenesulfonate and Cholesterol Ester Storage Disease
| Article | Year |
|---|---|
Large-scale screening of lipase acid deficiency in at risk population.
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Female; Humans; Infant, Newborn; Lipase; Preg | 2021 |
Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
Topics: Carbamates; Cells, Cultured; Cholesterol Ester Storage Disease; Dried Blood Spot Testing; Fibroblast | 2014 |
Clinical Features of Lysosomal Acid Lipase Deficiency.
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Child; Child, Preschool; Chole | 2015 |
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.
Topics: Biopsy; Cells, Cultured; Child; Child, Preschool; Cholesterol Ester Storage Disease; Cholesterol Est | 2004 |
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.
Topics: Animals; Cells, Cultured; CHO Cells; Cholesterol Ester Storage Disease; Cholesterol Esters; Cricetin | 2005 |
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
Topics: Adult; Alleles; Base Sequence; Cholesterol Ester Storage Disease; DNA Primers; Gene Deletion; Humans | 1995 |
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
Topics: Adult; Aged; Alleles; Base Sequence; beta-Galactosidase; Cholesterol Ester Storage Disease; Codon; D | 1995 |
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.
Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; beta-Galactosidase; Cholesterol; Cholesterol Est | 1995 |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
Topics: Adolescent; Aged; Aged, 80 and over; Base Sequence; Cholesterol Ester Storage Disease; Consanguinity | 1994 |
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
Topics: Adolescent; Adult; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Cholesterol Ester St | 1993 |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
Topics: Alternative Splicing; Amino Acid Sequence; Base Sequence; Cholesterol Ester Storage Disease; DNA Mut | 1996 |
Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.
Topics: Amino Acid Sequence; Animals; Base Sequence; Cholesterol Ester Storage Disease; DNA, Complementary; | 1996 |
Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.
Topics: Cholesterol Ester Storage Disease; DNA Mutational Analysis; DNA, Complementary; Genotype; Humans; Li | 1996 |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
Topics: Child; Child, Preschool; Cholesterol Ester Storage Disease; HeLa Cells; Heterozygote; Humans; Lipase | 1996 |
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).
Topics: Alleles; Cholesterol Ester Storage Disease; Female; Gene Frequency; Germany; Humans; Lipase; Male; P | 1996 |
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin.
Topics: Anticholesteremic Agents; Cholesterol Ester Storage Disease; Female; Genetic Variation; Humans; Imag | 1997 |
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
Topics: Adult; Cells, Cultured; Cholesterol Ester Storage Disease; Female; Humans; Lipase; Lysosomes; Male; | 1997 |
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
Topics: Adult; Cholesterol Ester Storage Disease; Exons; Heterozygote; Humans; Lipase; Lysosomes; Male; Midd | 1998 |
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
Topics: Amino Acid Substitution; Animals; Base Sequence; Cells, Cultured; Cholesterol Ester Storage Disease; | 1998 |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
Topics: Amino Acid Substitution; Base Sequence; Child; Cholesterol Ester Storage Disease; Exons; Female; Gen | 1998 |
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
Topics: Animals; Base Sequence; Cholesterol Ester Storage Disease; Disease Models, Animal; DNA Primers; Fema | 1998 |
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.
Topics: Adult; Anemia; Cholesterol Ester Storage Disease; Diagnosis, Differential; DNA, Recombinant; Exons; | 1999 |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
Topics: Adult; Amino Acid Substitution; Animals; Base Sequence; Cells, Cultured; Child; Cholesterol Ester St | 1999 |
Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma.
Topics: Adult; Arteriosclerosis; Bile Duct Neoplasms; Bile Ducts, Intrahepatic; Cholangiocarcinoma; Choleste | 2000 |
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease.
Topics: Child, Preschool; Cholesterol Ester Storage Disease; Cholesterol Esters; Fatty Acids; Glycogen; Huma | 2000 |
[Lysosomal acid lipase deficiency. Overview of Czech patients].
Topics: Adult; Cholesterol Ester Storage Disease; Czech Republic; Female; Humans; Infant; Lipase; Lysosomes; | 1999 |
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
Topics: Adipocytes; Adipose Tissue; Adipose Tissue, Brown; Aging; Animals; Blood Glucose; Cell Differentiati | 2001 |
Enzyme therapy for lysosomal acid lipase deficiency in the mouse.
Topics: Animals; Antibodies; Cells, Cultured; Cholesterol Ester Storage Disease; Disease Models, Animal; Dru | 2001 |
Pyrene-methyl lauryl ester, a new fluorescent substrate for lipases: use for diagnosis of acid lipase deficiency in Wolman's and cholesteryl ester storage diseases.
Topics: Cell Line; Cells, Cultured; Cholesterol Ester Storage Disease; Clinical Enzyme Tests; Fluorescent Dy | 1989 |