Works matching DE "SPHINGOLIPIDOSES"

Results: 128

Sphingolipid lysosomal storage disorders.

Published in:

Nature, 2014, v. 510, n. 7503, p. 68, doi. 10.1038/nature13476

By:

Platt, Frances M.

Publication type:

Article

Practical Enzymology of the Sphingolipidoses.

Published in:

1978

By:

Barnard, R. O.

Publication type:

Book Review

Uptake of long chain fatty acids is regulated by dynamic interaction of FAT/CD36 with cholesterol/sphingolipid enriched microdomains (lipid rafts).

Published in:

BMC Cell Biology, 2008, v. 9, p. 1, doi. 10.1186/1471-2121-9-45

By:

Ehehalt, Robert;
Sparla, Richard;
Kulaksiz, Hasan;
Herrmann, Thomas;
Füllekrug, Joachim;
Stremmel, Wolfgang

Publication type:

Article

Computational identification and experimental characterization of substrate binding determinants of nucleotide pyrophosphatase/ phosphodiesterase 7.

Published in:: BMC Biochemistry, 2011, v. 12, n. 1, p. 65, doi. 10.1186/1471-2091-12-65
Publication type:: Article

DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice.

Published in:

2009

By:

Terashima, Tomoya;
Oka, Kazuhiro;
Kritz, Angelika B.;
Kojima, Hideto;
Baker, Andrew H.;
Chan, Lawrence

Publication type:

journal article

Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice.

Published in:

2007

By:

Mizugishi, Kiyomi;
Cuiling Li;
Olivera, Ana;
Bielawski, Jacek;
Bielawska, Alicja;
Chu-Xia Deng;
Proia, Richard L.;
Li, Cuiling;
Deng, Chu-Xia

Publication type:

journal article

Enzyme Replacement in Gaucher Disease.

Published in:

PLoS Medicine, 2004, v. 1, n. 2, p. 118, doi. 10.1371/journal.pmed.0010021

By:

Beutler, Ernest

Publication type:

Article

Effects of inhibitors of key enzymes of sphingolipid metabolism on insulin-induced glucose uptake and glycogen synthesis in liver cells of old rats.

Published in:

Biochemistry (00062979), 2015, v. 80, n. 1, p. 104, doi. 10.1134/S0006297915010125

By:

Babenko, N.;
Kharchenko, V.

Publication type:

Article

Membrane Traffic in Sphingolipid Storage Diseases.

Published in:

Traffic, 2000, v. 1, n. 11, p. 807, doi. 10.1034/j.1600-0854.2000.011101.x

By:

Pagano, Richard E.;
Puri, Vishwajeet;
Dominguez, Michel;
Marks, David L.

Publication type:

Article

Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann- Pick type C1.

Published in:

Molecular Microbiology, 2014, v. 91, n. 3, p. 438, doi. 10.1111/mmi.12470

By:

Vilaça, Rita;
Silva, Elísio;
Nadais, André;
Teixeira, Vítor;
Matmati, Nabil;
Gaifem, Joana;
Hannun, Yusuf A.;
Sá Miranda, Maria Clara;
Costa, Vítor

Publication type:

Article

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

Published in:

Balkan Medical Journal, 2022, v. 39, n. 5, p. 345, doi. 10.4274/balkanmedj.galenos.2022.2022-3-75

By:

Akar, Halil Tuna;
Yıldız, Yılmaz;
Güvenkaya, Gökhan;
Çıkı, Kısmet;
Kahraman, Ayşe Burcu;
Erdal, İzzet;
Coşkun, Turgay;
Dursun, Ali;
Sivri, Hatice Serap;
Tokatlı, Ayşegül

Publication type:

Article

Fumonisin B1 (FB1) Induces Lamellar Separation and Alters Sphingolipid Metabolism of In Vitro Cultured Hoof Explants.

Published in:

Toxins, 2016, v. 8, n. 4, p. 89, doi. 10.3390/toxins8040089

By:

Reisinger, Nicole;
Dohnal, Ilse;
Nagl, Veronika;
Schaumberger, Simone;
Schatzmayr, Gerd;
Mayer, Elisabeth

Publication type:

Article

Diagnostic Methods for Gaucher Disease.

Published in:

2015

By:

SALEHPOUR, Shadab

Publication type:

Abstract

Genetic investigation of Leukodystrophy in Iran.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 11

By:

HOUSHMAND, Massoud

Publication type:

Article

Kunihiko Suzuki and sphingolipidoses.

Published in:

Journal of Biochemistry, 2011, v. 150, n. 6, p. 597, doi. 10.1093/jb/mvr127

By:

Ohno, Kousaku

Publication type:

Article

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Published in:

2016

By:

Alfadhel, Majid;
Benmeakel, Mohammed;
Arif Hossain, Mohammad;
Al Mutairi, Fuad;
Al Othaim, Ali;
Alfares, Ahmed A.;
Al Balwi, Mohammed;
Alzaben, Abdullah;
Eyaid, Wafaa;
Hossain, Mohammad Arif

Publication type:

journal article

Quality of life in patients with Fabry disease: a systematic review of the literature.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0296-8

By:

Arends, Maarten;
Hollak, Carla E. M.;
Biegstraaten, Marieke

Publication type:

Article

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36

By:

H�ron, B�n�dicte;
Valayannopoulos, Vassili;
Baruteau, Julien;
Chabrol, Brigitte;
Ogier, H�l�ne;
Latour, Philippe;
Dobbelaere, Dries;
Eyer, Didier;
Labarthe, Fran�ois;
Maurey, H�l�ne;
Cuisset, Jean-Marie;
de Villemeur, Thierry Billette;
Sedel, Fr�d�ric;
Vanier, Marie T.

Publication type:

Article

The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3β and Deregulation of Molecular Motors.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 24, p. 10048, doi. 10.1523/JNEUROSCI.0217-13.2013

By:

Castelvetri, Ludovico Cantuti;
Givogri, Maria I.;
Hebert, Amy;
Smith, Benjamin;
Song, Yuyu;
Kaminska, Agnieszka;
Lopez-Rosas, Aurora;
Morfini, Gerardo;
Pigino, Gustavo;
Sands, Mark;
Brady, Scott T.;
Bongarzone, Ernesto R.

Publication type:

Article

Successful pregnancy outcome in a patient with Gaucher's disease and antiphospholipid syndrome.

Published in:

2002

By:

Sherer, Y.;
Dulitzki, M.;
Levy, Y.;
Livneh, A.;
Shoenfeld, Y.;
Langevitz, P.

Publication type:

journal article

Natural History of Adult Patients with GM2 Gangliosidosis.

Published in:

2020

By:

Masingue, Marion;
Dufour, Louis;
Lenglet, Timothée;
Saleille, Lisa;
Goizet, Cyril;
Ayrignac, Xavier;
Ory‐Magne, Fabienne;
Barth, Magali;
Lamari, Foudil;
Mandia, Daniele;
Caillaud, Catherine;
Nadjar, Yann;
Ory-Magne, Fabienne

Publication type:

journal article

Angiokeratoma corporis diffusum.

Published in:

Indian Pediatrics, 2015, v. 52, n. 2, p. 175, doi. 10.1007/s13312-015-0601-6

By:

Jayavardhana, A.;
Balasubramanian, Pradeep;
Vijayalakshmi, A.

Publication type:

Article

Fabry disease - importance of screening in cornea verticillata: case report.

Published in:

Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 6, p. 447, doi. 10.1590/S0004-27492011000600014

By:

YONAMINE, FABIO YAMASATO;
E. ARANTES, TIAGO EUGÊNIO FARIA;
MUCCIOLI, CRISTINA

Publication type:

Article

Evidence for inflammation in Fabry's disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment.

Published in:

2017

By:

Kraemer, Markus;
Karabul, N.;
Berlit, P.;
Rolfs, A.

Publication type:

Letter

Genetic and laboratory diagnostic approach in Niemann Pick disease type C.

Published in:

Journal of Neurology, 2014, v. 261, p. 569, doi. 10.1007/s00415-014-7386-8

By:

McKay Bounford, K.;
Gissen, P.

Publication type:

Article

LIPOIDOSES.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 12, p. 457

By:

F. F. H.

Publication type:

Article

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
Šmíd, F.;
Elleder, M.

Publication type:

Article

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
míd, F.;
Elleder, M.

Publication type:

Article

Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff.

Published in:

1998

By:

Beck, M;
Sieber, N;
Goebel, H H

Publication type:

Case Study

Extraosseous Gaucher cell deposition without adjacent bone involvement.

Published in:

Skeletal Radiology, 2014, v. 43, n. 10, p. 1495, doi. 10.1007/s00256-014-1927-1

By:

Meyer, Brendan;
Mills, Anne;
Gaskin, Cree

Publication type:

Article

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

Published in:

Rheumatology, 2014, v. 53, n. 8, p. 1533, doi. 10.1093/rheumatology/keu010

By:

Torcoletti, Marta;
Petaccia, Antonella;
Pinto, Rita Maria;
Hladnik, Uros;
Locatelli, Franco;
Agostoni, Carlo;
Corona, Fabrizia

Publication type:

Article

Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.

Published in:

Clinical & Experimental Dermatology, 1992, v. 17, n. 1, p. 56, doi. 10.1111/j.1365-2230.1992.tb02537.x

By:

Gasparini, G.;
Sarchi, G.;
Cavicchini, S.;
Bertagnolio, B.

Publication type:

Article

Angiokeratomas – When is a few too many?

Published in:

International Journal of STD & AIDS, 2014, v. 25, n. 5, p. 378, doi. 10.1177/0956462413506893

By:

O’Mahony, Colm;
Franks, Andrea;
Llewellyn, Rhiannon

Publication type:

Article

Fabry Disease Presenting with Multiple Hemorrhagic Cerebral Infarction.

Published in:

Neuroradiology Journal, 2012, v. 25, n. 1, p. 30, doi. 10.1177/197140091202500104

By:

OOKA, M.;
IIZUKA, Y.;
NOMOTO, N.;
FUJIOKA, T.;
SHIMIZU, N.;
SEKINE, T.;
KOHDA, E.

Publication type:

Article

GM1-generalized gangliosidosis variant with cardiomegaly.

Published in:

1976

By:

Benson, P. F.;
Brown, S. P.;
Babarik, A.;
Mann, T. P.;
Barbarik, A

Publication type:

journal article

I-cell disease--mucolipidosis II.

Published in:

1973

By:

Gordon, Neil;
Gordon, N

Publication type:

journal article

Extensive telangiectasias and mongolian spots: A clue towards GM1-gangliosidosis.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 5, p. 573, doi. 10.4103/ijd.ijd_52_23

By:

Gupta, Sachin;
Patel, Varniraj;
Garg, Shivangi;
Mehta, Nikhil

Publication type:

Article

A 6-Year-Old Girl With Thrombocytopenia.

Published in:

Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 7, p. e305, doi. 10.5858/2003-127-e305-pqcayo

By:

Shayan, Katayoon;
Ye, Charles C.;
Revel-Vilk, Shoshana

Publication type:

Article

Terapia de reemplazo enzimático en una paciente con enfermedad de Gaucher tipo III.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 1, p. 9

By:

Carbajal-Rodríguez, Luis;
Gómez-González, Fernanda;
Rodríguez-Herrera, Raymundo;
Zarco-Román, Jorge;
Mora-Tiscareño, Antonieta

Publication type:

Article

La relación genotipo y fenotipo de la enfermedad de Gaucher en pacientes mexicanos. Estudio comparativo.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 1, p. 38

By:

Carbajal-Rodríguez, Luis;
Voirol-García, Aitana;
Mora-Magaña, Ignacio

Publication type:

Article

Characterization of the Sphingolipidome of the Peri-Infarct Tissue during Hemorrhagic Transformation in a Mouse Model of Cerebral Ischemia.

Published in:

Journal of Integrative Neuroscience, 2022, v. 21, n. 6, p. 1, doi. 10.31083/j.jin2106161

By:

Lucaciu, Alexandra;
Trautmann, Sandra;
Thomas, Dominique;
Lachner, Karsten;
Brunkhorst, Robert;
Subburayalu, Julien

Publication type:

Article

Anaesthesia recommendations for Metachromatic leukodystrophy.

Published in:: Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S142, doi. 10.19224/ai2023.S142
Publication type:: Article

Anaesthesia recommendations for Metachromatic leukodystrophy.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 4, p. S142, doi. 10.19224/ai2023.S142

By:

Kanani, Shivan;
Raviraj, Divya

Publication type:

Article

Biomarkers and Imaging Findings of Anderson-Fabry Disease--What We Know Now.

Published in:

Diseases, 2017, v. 5, n. 2, p. 15, doi. 10.3390/diseases5020015

By:

Beirão, Idalina;
Cabrita, Ana;
Torres, Márcia;
Silva, Fernando;
Aguiar, Patrício;
Laranjeira, Francisco;
Gomes, Ana Marta

Publication type:

Article

Changes in the Human Metabolome Associated With Alcohol Use: A Review.

Published in:

Alcohol & Alcoholism, 2019, v. 54, n. 3, p. 225, doi. 10.1093/alcalc/agz030

By:

Voutilainen, Taija;
Kärkkäinen, Olli

Publication type:

Article

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3

By:

Chengzhe Xu;
Sakai, Norio;
Taniike, Masako;
Inui, Koji;
Ozono, Keiichi

Publication type:

Article

Glycerophospholipids in Red Blood Cells Are Associated with Aerobic Performance in Young Swimmers.

Published in:

Nutrients, 2024, v. 16, n. 6, p. 765, doi. 10.3390/nu16060765

By:

Silva, Álex Aparecido Rosini;
Bertolucci, Vanessa;
Scariot, Pedro Paulo Menezes;
da Cruz, João Pedro;
Mendes, Flavio Marcio Macedo;
de Oliveira, Danilo Cardoso;
Plumari, Catharina Delry;
Dos Reis, Ivan Gustavo Masseli;
Porcari, Andreia Melo;
Messias, Leonardo Henrique Dalcheco

Publication type:

Article

Nutrients, Physical Activity, and Mitochondrial Dysfunction in the Setting of Metabolic Syndrome.

Published in:

Nutrients, 2023, v. 15, n. 5, p. 1217, doi. 10.3390/nu15051217

By:

Lemos, Gabriela de Oliveira;
Torrinhas, Raquel Susana;
Waitzberg, Dan Linetzky

Publication type:

Article

Fabry disease in a geriatric population.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 499, doi. 10.1111/cge.12585

By:

Barbey, F.;
Joly, D.;
Noel, E.;
Drouineau, O.;
Krayenbühl, P.‐A.;
Lidove, O.

Publication type:

Article

Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease.

Published in:

Clinical Genetics, 2004, v. 66, n. 2, p. 158, doi. 10.1111/j.1399-0004.2004.00284.x

By:

Spinelli, L.;
Pisani, A.;
Sabbatini, M.;
Petretta, M.;
Andreucci, M.V.;
Procaccini, D.;
Lo Surdo, N.;
Federico, S.;
Cianciaruso, B.

Publication type:

Article