Works matching DE "CEREBROSIDE metabolism disorders"

Results: 46

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Published in:

2004

By:

Baldellou, Antonio;
Andria, Generoso;
Campbell, Pauline E.;
Charrow, Joel;
Grabowski, Gregory A.;
Kaplan, Paige;
McHugh, Kieran;
Mengel, Eugen;
Vellodi, Ashok;
Harris, Chris M.;
Cohen, Ian J.

Publication type:

journal article

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58

By:

Charrow, Joel;
Kaplan, Paige;
Mengel, Eugen;
Pocovi, Miguel;
Vellodi, Ashok;
Grabowski, Gregory A.;
Cohen, Ian J.;
Harris, Chris M.;
Andria, Generoso;
Baldellou, Antonio;
Campbell, Pauline E.

Publication type:

Article

PERINATAL LETHAL GAUCHER DISEASE: A DISTINCT PHENOTYPE ALONG THE NEURONOPATHIC CONTINUUM.

Published in:

Fetal & Pediatric Pathology, 2005, v. 24, n. 4/5, p. 205, doi. 10.1080/15227950500405296

By:

Eblan, Michael J.;
Goker-Alpan, Ozlem;
Sidransky, Ellen

Publication type:

Article

Morbus Gaucher -- prikaz dva bolesnika.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2006, v. 63, n. 12, p. 1039, doi. 10.2298/VSP0612039D

By:

Đokić, Milomir

Publication type:

Article

Gaucher Disease and Cancer: Concept and Controversy.

Published in:

International Journal of Cell Biology, 2011, v. 2011, p. 1, doi. 10.1155/2011/150450

By:

Choy, Francis Y. M.;
Campbell, Tessa N.

Publication type:

Article

In Vivo and Ex Vivo Evaluation of L-Type Calcium Channel Blockers on Acid β-Glucosidase in Gaucher Disease Mouse Models.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007320

By:

Ying Sun;
Liou, Benjamin;
Quinn, Brian;
Ran, Huimin;
You-Hai Xu;
Grabowski, Gregory A.

Publication type:

Article

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

Published in:

FASEB Journal, 2015, v. 29, n. 9, p. 3839, doi. 10.1096/fj.15-271148

By:

Malini, Erika;
Zampieri, Stefania;
Deganuto, Marta;
Romanello, Milena;
Sechi, Annalisa;
Bembi, Bruno;
Dardis, Andrea

Publication type:

Article

Multiple Lytic Bone Lesions in an 85-Year-Old Man.

Published in:

Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 6, p. e148, doi. 10.5858/2005-129-e148-mlblia

By:

Kaleem, Zahid;
Hassan, Anjum

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

Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?

Published in:

European Radiology, 2015, v. 25, n. 10, p. 2969, doi. 10.1007/s00330-015-3715-2

By:

Fedida, Benjamin;
Touraine, Sébastien;
Stirnemann, Jerôme;
Belmatoug, Nadia;
Laredo, Jean-Denis;
Petrover, David

Publication type:

Article

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 4, p. 220, doi. 10.1007/s10038-004-0134-7

By:

LaMarca, Mary E.;
Goldstein, Mona;
Tayebi, Nahid;
Arcos-Burgos, Mauricio;
Martin, Brian M.;
Sidransky, Ellen

Publication type:

Article

Gaucher disease in a 53-year-old Iranian man.

Published in:

2013

By:

Valizadeh, Nasim;
Vossoghian, Sara

Publication type:

Letter

Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis.

Published in:

Indian Journal of Endocrinology & Metabolism, 2011, v. 15, n. 3, p. 224, doi. 10.4103/2230-8210.83415

By:

Jain, Vishakha V.;
Yelwatkar, Samir

Publication type:

Article

Gaucher's disease.

Published in:

Indian Journal of Endocrinology & Metabolism, 2011, v. 15, n. 3, p. 182, doi. 10.4103/2230-8210.83402

By:

Bohra, Vijay;
Nair, Velu

Publication type:

Article

Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 3, p. 207, doi. 10.1016/j.ejmhg.2015.02.001

By:

Tantawy, Azza A. G.

Publication type:

Article

Fatal Bleeding from Esophageal Varices in a Patient with Gaucher's Disease.

Published in:

American Journal of Gastroenterology (Springer Nature), 1982, v. 77, n. 11, p. 838

By:

Aderka, D.;
Garfinkel, D.;
Rothem, A.;
Pinkhas, J.

Publication type:

Article

Classification-based comparison of pre-processing methods for interpretation of mass spectrometry generated clinical datasets.

Published in:

Proteome Science, 2009, v. 7, p. 1, doi. 10.1186/1477-5956-7-19

By:

Wegdam, Wouter;
Moerland, Perry D.;
Buist, Marrije R.;
van Themaat, Emiel Ver Loren;
Bleijlevens, Boris;
Hoefsloot, Huub C. J.;
de Koster, Chris G.;
Aerts, Johannes M. F. G.

Publication type:

Article

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.

Published in:

Skeletal Radiology, 2014, v. 43, n. 10, p. 1353, doi. 10.1007/s00256-014-1891-9

By:

Kamath, Ravi;
Lukina, Elena;
Watman, Nora;
Dragosky, Marta;
Pastores, Gregory;
Arreguin, Elsa;
Rosenbaum, Hanna;
Zimran, Ari;
Aguzzi, Rasha;
Puga, Ana;
Norfleet, Andrea;
Peterschmitt, M.;
Rosenthal, Daniel

Publication type:

Article

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

Radiological aspects of Gaucher disease.

Published in:

2011

By:

Katz, Robert;
Booth, Tom;
Hargunani, Rikin;
Wylie, Peter;
Holloway, Brian

Publication type:

journal article

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x

By:

Diaz-Font, Anna;
Cormand, Bru;
Santamaria, Raül;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Chabás, Amparo

Publication type:

Article

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0

By:

Díaz-Font, Anna;
Cormand, Bru;
Blanco, Mariana;
Chamoles, Néstor;
Chabás, Amparo;
Grinberg, Daniel;
Vilageliu, Lluïsa

Publication type:

Article

Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380

By:

Tayebi, Nahid;
Park, Joseph;
Madike, Victor;
Sidransky, Ellen

Publication type:

Article

Survey of hematological aspects of Gaucher disease.

Published in:

Hematology, 2005, v. 10, n. 2, p. 151, doi. 10.1080/10245330500067181

By:

Zimran, Ari;
Altarescu, Gheona;
Rudensky, Bernard;
Abrahamov, Aya;
Elstein, Deborah

Publication type:

Article

Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3).

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0280-3

By:

Weinreb, Neal J.;
Finegold, David N.;
Feingold, Eleanor;
Zhen Zeng;
Rosenbloom, Barry E.;
Shankar, Suma P.;
Amato, Dominick

Publication type:

Article

Reducing selection bias in case-control studies from rare disease registries.

Published in:

2011

By:

Cole, J Alexander;
Taylor, John S;
Hangartner, Thomas N;
Weinreb, Neal J;
Mistry, Pramod K;
Khan, Aneal

Publication type:

journal article

DENTAL OBSERVATIONS IN GAUCHER'S DISEASE.

Published in:

Journal of Dental Research, 1938, v. 17, n. 5, p. 359, doi. 10.1177/00220345380170050201

By:

BENDER, I. B.

Publication type:

Article

Quality of life related to type 1 Gaucher disease: Spanish experience.

Published in:

2005

By:

Giraldo, Pilar;
Solano, Victor;
Pérez-Calvo, Juan-Ignacio;
Giralt, Manuel;
Rubio-Félix, Daniel;
Pérez-Calvo, Juan-Ignacio;
Rubio-Félix, Daniel;
Spanish Group on Gaucher disease

Publication type:

journal article

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress.

Published in:

Journal of Cellular Physiology, 2007, v. 212, n. 1, p. 223, doi. 10.1002/jcp.21023

By:

Deganuto, Marta;
Pittis, Maria Gabriela;
Pines, Alex;
Dominissini, Silvia;
Kelley, Mark R.;
Garcia, Rodolfo;
Quadrifoglio, Franco;
Bembi, Bruno;
Tell, Gianluca

Publication type:

Article

Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature.

Published in:

European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5

By:

Wiesner, L.;
Niggemeyer, O.;
Kothe, R.;
Meiss, A. L.

Publication type:

Article

Gaucher's disease with uncommon presentations.

Published in:

2009

By:

GUPTA, SANJAY SEN;
MONDAL, PALASH;
BASU, NANDITA;
MALLICK, MAMATA GUHA

Publication type:

Case Study

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.

Published in:

FEBS Journal, 2006, v. 273, n. 17, p. 4082, doi. 10.1111/j.1742-4658.2006.05410.x

By:

Hui-Hwa Chang;
Asano, Naoki;
Ishii, Satoshi;
Ichikawa, Yoshitaka;
Jian-Qiang Fan

Publication type:

Article

Enfermedad de Gaucher neuronopática tipo III. Revisión de la literatura y presentación de un caso tratado con enzima recombinante humana.

Published in:

Revista Mexicana de Neurociencia, 2007, v. 8, n. 3, p. 261

By:

de Lourdes, Llamosa García Velásquez Gloria;
Navarrete Martínez Juana Inés;
Irene, Rivera Salgado;
María, Vicuña González Rosa

Publication type:

Article

Enzyme replacement therapy for Gaucher disease in Australia.

Published in:

Internal Medicine Journal, 2005, v. 35, n. 3, p. 156, doi. 10.1111/j.1445-5994.2004.00765.x

By:

Goldblatt, J.;
Szer, J.;
Fletcher, M.;
McGill, J.;
Rowell, J. A.;
Wilson, M.

Publication type:

Article

POLIMORFISMUL APOPROTEINEI E LA PACIENŢII CU BOALĂGAUCHER TIP I.

Published in:

Clujul Medical, 2009, v. 82, n. 4, p. 586

By:

Coldea, Cristina;
Popp, Radu Anghel;
Trifa, Adrian Pavel;
Zimmermann, Anca;
Al-Khzouz, Camelia;
Alexandra Craciun;
Grigorescu-Sido, Paula

Publication type:

Article

Gaucher's Disease: Neurologic Disorder in Adult Siblings.

Published in:

Annals of Internal Medicine, 1973, v. 78, n. 6, p. 883, doi. 10.7326/0003-4819-78-6-883

By:

Miller, J.D.;
McCluer, Robert;
Kanfer, Julian N.

Publication type:

Article

Study of Multimodal Evoked Potentials in Patients With Type 1 Gaucher's Disease.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 2, p. 124, doi. 10.1177/08830738050200020801

By:

Perretti, Anna;
Parenti, Giancarlo;
Balbi, Pietro;
Titomanlio, Luigi;
Marcantonio, Lucia;
Iapoce, Mariangela;
Frascogna, Anna Rita;
Andria, Generoso;
Santoro, Lucio

Publication type:

Article

The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat.

Published in:

Xenobiotica, 2007, v. 37, n. 3, p. 298, doi. 10.1080/00498250601094543

By:

Treiber, A.;
Morand, O.;
Clozel, M.

Publication type:

Article

Alpha-synuclein induces lysosomal rupture and cathepsin dependent reactive oxygen species following endocytosis.

Published in:

2013

By:

Pastores, Gregory

Publication type:

Opinion

Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types correlation with genotype and phenotype.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 1, p. 26
Publication type:: Article

Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 59
Publication type:: Article

Bilateral lung transplant in Gauchers type-1 disease.

Published in:

Pediatric Transplantation, 2005, v. 9, n. 2, p. 239, doi. 10.1111/j.1399-3046.2005.00251.x

By:

Rao, Aparna R.;
Parakininkas, Daiva;
Hintermeyer, Mary;
Segura, Annette D.;
Rice, Tom B.

Publication type:

Article

Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.

Published in:

Plant Biotechnology Journal, 2007, v. 5, n. 5, p. 579, doi. 10.1111/j.1467-7652.2007.00263.x

By:

Shaaltiel, Yoseph;
Bartfeld, Daniel;
Hashmueli, Sharon;
Baum, Gideon;
Brill‐Almon, Einat;
Galili, Gad;
Dym, Orly;
Boldin‐Adamsky, Swetlana A.;
Silman, Israel;
Sussman, Joel L.;
Futerman, Anthony H.;
Aviezer, David

Publication type:

Article

Aggregation of red blood cells in patients with Gaucher disease.

Published in:

British Journal of Haematology, 2006, v. 134, n. 4, p. 432, doi. 10.1111/j.1365-2141.2006.06199.x

By:

Adar, Tomer;
Ben-Ami, Ronen;
Elstein, Deborah;
Zimran, Ari;
Berliner, Shlomo;
Yedgar, Saul;
Barshtein, Gershon

Publication type:

Article

Gaucher disease: a lysosomal neurodegenerative disorder.

Published in:

European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 7, p. 1219

By:

HUANG, W. J.;
ZHANG, X.;
CHEN, W. W.

Publication type:

Article

Enzyme replacement therapy for Gaucher's disease: the early Canadian experience.

Published in:

1998

By:

MacKenzie, Jennifer J.;
Amato, Dominick;
Clarke, Joe T.R.;
MacKenzie, J J;
Amato, D;
Clarke, J T

Publication type:

journal article