1-anilino-8-naphthalenesulfonate has been researched along with Wolman Disease in 48 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.
Wolman Disease: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene." | 3.01 | Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature. ( Asna Ashari, K; Azari-Yam, A; Shahrooei, M; Ziaee, V, 2023) |
| "The concept of treatment of Wolman's disease by providing normalization of the acid lipase activity by allogeneic bone marrow transplantation remains valid." | 2.38 | Wolman's disease: a review of treatment with bone marrow transplantation and considerations for the future. ( Chan, KW; Freese, D; Krivit, W; Kulkarni, R, 1992) |
| "Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester." | 1.33 | Wolman disease: diagnosis by leucocyte acid lipase estimation. ( Barucha, BA; Muranjan, MN; Surve, TY, 2005) |
| "Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy." | 1.31 | Wolman disease successfully treated by bone marrow transplantation. ( Anderson, R; Ben-Yoseph, Y; Dusenbery, K; Krivit, W; Peters, C; Ramsay, NK; Wagner, JE, 2000) |
| "Wolman disease is a lethal lysosomal storage disease due to deficiency of lysosomal acid lipase (LAL)." | 1.31 | Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. ( Czarnecki, S; Du, H; Glick, JM; Grabowski, GA; Lohse, P; Rader, DJ; Sun, G; Tietge, UJ; Yu, Q, 2001) |
| "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) |
| "We previously reported a rat model of Wolman's disease (Wolman rat) that is deficient for LAL activity." | 1.29 | Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease. ( Fujiyama, J; Kuriyama, M; Matsubara, S; Nakagawa, H; Osame, M; Yoshida, H; Yoshidome, H, 1995) |
| "Wolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi." | 1.27 | First trimester diagnosis of Wolman's disease. ( Ammälä, P; Janse, HC; Kleijer, WJ; van Diggelen, OP; von Koskull, H; Vredeveldt, GT, 1988) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (10.42) | 18.7374 |
| 1990's | 23 (47.92) | 18.2507 |
| 2000's | 10 (20.83) | 29.6817 |
| 2010's | 5 (10.42) | 24.3611 |
| 2020's | 5 (10.42) | 2.80 |
| Authors | Studies |
|---|---|
| Lipiński, P | 1 |
| Tylki-Szymańska, A | 2 |
| Vasudevan, K | 1 |
| Udhaya Kumar, S | 1 |
| Mithun, A | 1 |
| Raghavendra, B | 1 |
| George Priya Doss, C | 1 |
| Elaraby, NM | 1 |
| Galal, ER | 1 |
| Abdel-Hamid, M | 1 |
| Elbendary, HM | 1 |
| Elbadry, M | 1 |
| Mekkawy, MK | 1 |
| Ashaat, NA | 1 |
| Mounir, SM | 1 |
| Ashaat, EA | 1 |
| Asna Ashari, K | 1 |
| Azari-Yam, A | 1 |
| Shahrooei, M | 1 |
| Ziaee, V | 1 |
| 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 |
| 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 |
| Gokce, S | 1 |
| Huang, YL | 1 |
| Sheng, HY | 1 |
| Zhao, XY | 1 |
| Yu, JK | 1 |
| Li, L | 1 |
| Liu, HS | 1 |
| Gu, CM | 1 |
| He, DM | 1 |
| Liu, L | 1 |
| Boldrini, R | 2 |
| Devito, R | 1 |
| Biselli, R | 1 |
| Filocamo, M | 1 |
| Bosman, C | 2 |
| Surve, TY | 1 |
| Muranjan, MN | 1 |
| Barucha, BA | 1 |
| Du, H | 6 |
| Levine, M | 2 |
| Ganesa, C | 1 |
| Witte, DP | 3 |
| Cole, ES | 1 |
| Grabowski, GA | 6 |
| Nègre-Salvayre, A | 1 |
| Dagan, A | 2 |
| Gatt, S | 2 |
| Salvayre, R | 1 |
| Nakagawa, H | 2 |
| Matsubara, S | 1 |
| Kuriyama, M | 4 |
| Yoshidome, H | 1 |
| Fujiyama, J | 3 |
| Yoshida, H | 4 |
| Osame, M | 2 |
| Tanaka, A | 3 |
| Aslanidis, C | 3 |
| Ries, S | 2 |
| Fehringer, P | 2 |
| Büchler, C | 1 |
| Klima, H | 1 |
| Schmitz, G | 3 |
| Ameis, D | 2 |
| Greten, H | 1 |
| Becker, A | 1 |
| Carel, JC | 1 |
| Gendrel, D | 1 |
| Sakuraba, H | 1 |
| Fujita, T | 1 |
| Nagata, K | 1 |
| Pagani, F | 1 |
| Pariyarath, R | 1 |
| Garcia, R | 1 |
| Stuani, C | 1 |
| Burlina, AB | 1 |
| Ruotolo, G | 1 |
| Rabusin, M | 1 |
| Baralle, FE | 1 |
| Duanmu, M | 2 |
| Witte, D | 1 |
| Kitamura, K | 1 |
| Mayatepek, E | 1 |
| Seedorf, U | 1 |
| Wiebusch, H | 1 |
| Lenhartz, H | 1 |
| Assmann, G | 1 |
| Kuriwaki, K | 1 |
| Anderson, RA | 1 |
| Bryson, GM | 1 |
| Parks, JS | 1 |
| Elleder, M | 1 |
| Poupĕtová, H | 1 |
| Ledvinová, J | 1 |
| Hyánek, J | 1 |
| Zeman, J | 1 |
| Sýkora, J | 1 |
| Stozický, F | 1 |
| Chlumská, A | 1 |
| Lohse, P | 2 |
| Castro, M | 1 |
| Marcellini, M | 1 |
| Piemonte, F | 1 |
| Krivit, W | 2 |
| Peters, C | 1 |
| Dusenbery, K | 1 |
| Ben-Yoseph, Y | 1 |
| Ramsay, NK | 1 |
| Wagner, JE | 1 |
| Anderson, R | 1 |
| Tietge, UJ | 1 |
| Sun, G | 1 |
| Czarnecki, S | 1 |
| Yu, Q | 1 |
| Glick, JM | 1 |
| Rader, DJ | 1 |
| Heur, M | 2 |
| Hui, DY | 1 |
| Mishra, J | 2 |
| Zschenker, O | 1 |
| Jung, N | 1 |
| Rethmeier, J | 1 |
| Trautwein, S | 1 |
| Hertel, S | 1 |
| Zeigler, M | 1 |
| Schiavi, S | 1 |
| Röyttä, M | 1 |
| Fagerlund, AS | 1 |
| Toikkanen, S | 1 |
| Salmi, TT | 1 |
| Jorde, LB | 1 |
| Forsius, HR | 1 |
| Eriksson, AW | 1 |
| Freese, D | 1 |
| Chan, KW | 1 |
| Kulkarni, R | 1 |
| Kikuchi, M | 1 |
| Igarashi, K | 1 |
| Noro, T | 1 |
| Igarashi, Y | 1 |
| Hirooka, M | 1 |
| Tada, K | 1 |
| Sando, GN | 1 |
| Ma, GP | 1 |
| Lindsley, KA | 1 |
| Wei, YP | 1 |
| Suzuki, M | 1 |
| Igata, A | 1 |
| Iavarone, A | 2 |
| Dolfin, G | 1 |
| Bracco, G | 2 |
| Zaffaroni, M | 2 |
| Gallina, MR | 2 |
| Bona, G | 2 |
| Nègre, A | 1 |
| Piskorska, D | 1 |
| Kopieczna-Grzebieniak, E | 1 |
| Perona, A | 1 |
| van Diggelen, OP | 1 |
| von Koskull, H | 1 |
| Ammälä, P | 1 |
| Vredeveldt, GT | 1 |
| Janse, HC | 1 |
| Kleijer, WJ | 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] | |||||||
9 reviews available for 1-anilino-8-naphthalenesulfonate and Wolman Disease
| Article | Year |
|---|---|
Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.
Topics: Child; Exons; Humans; Infant; Lipase; Lymphohistiocytosis, Hemophagocytic; Male; Syndrome; Wolman Di | 2023 |
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 |
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 |
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 |
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 |
[Wolman disease, Fabry disease and beta-galactosidase deficiency].
Topics: beta-Galactosidase; Fabry Disease; Genes, Recessive; Glycosphingolipids; Humans; Lipase; Lysosomes; | 1998 |
[Wolman disease and cholesteryl ester storage disease].
Topics: Animals; Cholesterol Ester Storage Disease; Cholesterol Esters; Diagnosis, Differential; Humans; Lip | 2001 |
Wolman's disease: a review of treatment with bone marrow transplantation and considerations for the future.
Topics: Bone Marrow Transplantation; Child, Preschool; Combined Modality Therapy; Humans; Infant; Lipase; Lo | 1992 |
[The role and mechanism of lysosomal acid lipase activity].
Topics: Cholesterol Ester Storage Disease; Cholesterol Esters; Humans; Lipase; Lipoproteins, LDL; Lysosomes; | 1988 |
39 other studies available for 1-anilino-8-naphthalenesulfonate and Wolman Disease
| Article | Year |
|---|---|
Disturbance of lipid homeostasis in lysosomal lipase deficiency – pathomechanism, diagnosis and treatment
Topics: Homeostasis; Humans; Lipase; Lipids; Lysosomes; Wolman Disease | 2021 |
Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder.
Topics: Child; Humans; Infant, Newborn; Iran; Lipase; Lipids; Sterol Esterase; Wolman Disease | 2023 |
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Topics: Egypt; Humans; Lipase; Mutation; Wolman Disease | 2023 |
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Topics: Egypt; Humans; Lipase; Mutation; Wolman Disease | 2023 |
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Topics: Egypt; Humans; Lipase; Mutation; Wolman Disease | 2023 |
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
Topics: Egypt; Humans; Lipase; Mutation; Wolman Disease | 2023 |
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 |
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 |
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 |
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 |
Clinical Features of Lysosomal Acid Lipase Deficiency.
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Child; Child, Preschool; Chole | 2015 |
Clinical Features of Lysosomal Acid Lipase Deficiency.
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Child; Child, Preschool; Chole | 2015 |
Clinical Features of Lysosomal Acid Lipase Deficiency.
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Child; Child, Preschool; Chole | 2015 |
The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency.
Topics: Humans; Lipase; Sterol Esterase; Wolman Disease | 2016 |
The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency.
Topics: Humans; Lipase; Sterol Esterase; Wolman Disease | 2016 |
The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency.
Topics: Humans; Lipase; Sterol Esterase; Wolman Disease | 2016 |
The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency.
Topics: Humans; Lipase; Sterol Esterase; Wolman Disease | 2016 |
[Wolman disease with novel mutation of LIPA gene in a Chinese infant].
Topics: Adrenal Gland Diseases; Exons; Humans; Infant, Newborn; Leukocytes; Lipase; Liver; Lysosomes; Male; | 2012 |
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 |
Wolman disease: diagnosis by leucocyte acid lipase estimation.
Topics: Humans; Infant; Leukocytes; Lipase; Male; Spectrophotometry; Wolman Disease | 2005 |
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 |
Use of pyrenemethyl laurate for fluorescence-based determination of lipase activity in intact living lymphoblastoid cells and for the diagnosis of acid lipase deficiency.
Topics: Biological Transport; Endocytosis; Fluorescent Dyes; Humans; In Vitro Techniques; Laurates; Lipase; | 1993 |
Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease.
Topics: Amino Acid Sequence; Animals; Base Sequence; Chromosomes; Cloning, Molecular; Disease Models, Animal | 1995 |
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 |
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
Topics: Alternative Splicing; Base Sequence; Cells, Cultured; DNA Primers; Fibroblasts; Humans; Infant; Lipa | 1996 |
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
Topics: Anemia; Cells, Cultured; Consanguinity; Fatal Outcome; Female; Fibroblasts; Genotype; Humans; Infant | 1996 |
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 |
Fatal genetic defect causing Wolman disease.
Topics: Fatal Outcome; Female; Humans; Infant; Lipase; Wolman Disease | 1999 |
Morphological characteristics of lipid accumulation in liver-constituting cells of acid lipase deficiency rats (Wolman's disease model rats).
Topics: Animals; Azo Compounds; Desmin; Disease Models, Animal; Immunohistochemistry; Kupffer Cells; Lipase; | 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 |
[Lysosomal acid lipase deficiency. Overview of Czech patients].
Topics: Adult; Cholesterol Ester Storage Disease; Czech Republic; Female; Humans; Infant; Lipase; Lysosomes; | 1999 |
[Wolman's disease: a case with malabsorption and 2 cases with virus- negative fatty liver cirrhosis].
Topics: Biopsy; Calcinosis; Child, Preschool; Cholesterol; Chromosomes, Human, Pair 10; Fatty Liver; Gene De | 2000 |
Wolman disease successfully treated by bone marrow transplantation.
Topics: Bone Marrow Transplantation; Family Health; Graft Survival; Humans; Infant; Leukocytes; Lipase; Male | 2000 |
Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.
Topics: Adenoviridae; Animals; Blotting, Western; Cholesterol; COS Cells; DNA, Complementary; Dose-Response | 2001 |
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 |
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
Topics: Animals; Cholesterol Esters; Fetal Diseases; Fibroblasts; Humans; Infant; Lipase; Lysosomes; Mutatio | 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 |
Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.
Topics: Consanguinity; Diagnostic Errors; Female; Finland; Gaucher Disease; Humans; Infant; Lipase; Male; Pe | 1992 |
Evaluation of jejunal function in Wolman's disease.
Topics: Disaccharidases; Evoked Potentials; Female; Galactose; Glucose; Glycine; Humans; Infant; Intestinal | 1991 |
Intercellular transport of lysosomal acid lipase mediates lipoprotein cholesteryl ester metabolism in a human vascular endothelial cell-fibroblast coculture system.
Topics: beta-N-Acetylhexosaminidases; Biological Transport; Blood; Cell Communication; Cells, Cultured; Chol | 1990 |
Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.
Topics: Animals; Chromatography, Thin Layer; Disease Models, Animal; Lipase; Lysosomes; Rats; Wolman Disease | 1990 |
Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen.
Topics: Animals; Carbon Radioisotopes; Cholesterol Esters; Disease Models, Animal; Fatty Acids; Heterozygote | 1990 |
First trimester prenatal diagnosis of Wolman disease.
Topics: Amniotic Fluid; Carbon Radioisotopes; Chorionic Villi Sampling; Female; Humans; Infant; Lipase; Preg | 1989 |
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 |
Wolman's disease: clinical and biochemical findings of a new case.
Topics: Adrenal Glands; Female; Fibroblasts; Histiocytes; Humans; Infant; Lipase; Lipid Metabolism; Lipoprot | 1988 |
First trimester diagnosis of Wolman's disease.
Topics: Chorionic Villi Sampling; Female; Fetal Diseases; Humans; Lipase; Pregnancy; Pregnancy Trimester, Fi | 1988 |