Works matching Gaucher's disease

Results: 2322

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

Validez de la prueba de actividad enzimática de la glucocerebrosidasa para el diagnóstico de enfermedad de Gaucher, revisión sistemática.

Published in:

MedUNAB, 2017, v. 20, n. 2, p. 201, doi. 10.29375/01237047.3247

By:

Vera-Cala, Lina María;
Serrano-Gómez, Sergio Eduardo;
Cortés, Alexandra;
Estrada, Ismael;
Gáfaro, Aurora

Publication type:

Article

Critical appraisal of observational studies on enzyme replacement therapy for Gaucher's Disease.

Published in:

JBES: Brazilian Journal of Health Economics / Jornal Brasileiro de Economia da Saúde, 2015, v. 7, n. 3, p. 148

By:

Araujo, Denizar Vianna;
Bahia, Luciana;
Rendeiro, Marcia;
Martins, Ana Maria

Publication type:

Article

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

Published in:

2017

By:

Andrade-Campos, Marcio;
Alfonso, Pilar;
Irun, Pilar;
Armstrong, Judith;
Calvo, Carmen;
Dalmau, Jaime;
Domingo, Maria-Rosario;
Barbera, Jose-Luis;
Cano, Horacio;
Fernandez-Galán, Maria-Angeles;
Franco, Rafael;
Gracia, Inmaculada;
Gracia-Antequera, Miguel;
Ibañez, Angela;
Lendinez, Francisco;
Madruga, Marcos;
Martin-Hernández, Elena;
del Mar O'Callaghan, Maria;
del Soto, Alberto Pérez;
del Prado, Yolanda Ruiz

Publication type:

journal article

Apparent diffusion coefficient vale of the brain in patients with Gaucher’s disease type II and type III.

Published in:

Neuroradiology, 2009, v. 51, n. 11, p. 773, doi. 10.1007/s00234-009-0548-1

By:

Razek, Ahmed Abdel Khalek Abdel;
El-Gaber, Nahed Abd;
Abdalla, Ahmed;
Fathy, Abeer;
Azab, Ahmed;
Rahman, Ashraf Abdel

Publication type:

Article

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.

Published in:

2020

By:

Andrade-Campos, Marcio M.;
de Frutos, Laura López;
Cebolla, Jorge J.;
Serrano-Gonzalo, Irene;
Medrano-Engay, Blanca;
Roca-Espiau, Mercedes;
Gomez-Barrera, Beatriz;
Pérez-Heredia, Jorge;
Iniguez, David;
Giraldo, Pilar

Publication type:

journal article

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.

Published in:

2019

By:

Hopf, Susanne;
Pfeiffer, Norbert;
Liesenfeld, Matthias;
Mengel, Karl-Eugen;
Hennermann, Julia B.;
Schmidtmann, Irene;
Pitz, Susanne

Publication type:

journal article

Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A.

Published in:

2018

By:

Emanuel, Anthony J.;
Holman, Nathan;
Presnell, Susan E.;
Welsh, Cynthia T.;
Pai, Shashidhar;
Sun, Shaoli

Publication type:

Case Study

ENFERMEDAD DE GAUCHER EN LATINOAMÉRICA UN INFORME DEL REGISTRO INTERNACIONAL Y DEL GRUPO LATINOAMERICANO PARA LA ENFERMEDAD DE GAUCHER.

Published in:

Medicina (Buenos Aires), 2012, v. 72, n. 4, p. 273

By:

Drelichman, Guilermo;
Linares, Adriana;
Vilalobos, Jacobo;
Cabello, Juan Francisco;
Kerstenetzky, Marcelo;
Kohan, Regina M.;
Martins, Ana María

Publication type:

Article

Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-02996-9

By:

Narita, Aya;
Koto, Yuta;
Noto, Shinichi;
Okada, Masafumi;
Ono, Midori;
Baba, Terumi;
Sagara, Rieko;
Sakai, Norio

Publication type:

Article

Pharmacologic chaperoning as a strategy to treat Gaucher disease.

Published in:

FEBS Journal, 2007, v. 274, n. 19, p. 4944, doi. 10.1111/j.1742-4658.2007.06042.x

By:

Zhanqian Yu;
Sawkar, Anu R.;
Kelly, Jeffery W.

Publication type:

Article

QUALITY OF LIFE OF PATIENTS WITH GAUCHER DISEASE.

Published in:

Journal of Nursing UFPE / Revista de Enfermagem UFPE, 2017, v. 11, n. 11, p. 4282, doi. 10.5205/reuol.23542-49901-1-ED.1111201702

By:

de Oliveira Freitas, Saulo Emanoel;
Correia Ferreira, Themístoclys Thesko;
de Souza Costa, Bruna Gabrielle;
Magalhães Soares, Rafaela;
Cruz de Lucena, Nahãmi;
de Barros Correia, Nancy

Publication type:

Article

Revised recommendations for the management of Gaucher disease in children.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 4, p. 447, doi. 10.1007/s00431-012-1771-z

By:

Kaplan, Paige;
Baris, Hagit;
Meirleir, Linda;
Rocco, Maja;
El-Beshlawy, Amal;
Huemer, Martina;
Martins, Ana;
Nascu, Ioana;
Rohrbach, Marianne;
Steinbach, Lynne;
Cohen, Ian

Publication type:

Article

Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.

Published in:

2000

By:

Poll, L. W.;
Koch, J.-A.;
vom Dahl, S.;
Loxtermann, E.;
Sarbia, M.;
Niederau, C.;
Häussinger, D.;
Mödder, U.;
Häussinger, D;
Mödder, U

Publication type:

journal article

Sinais e sintomas na Doença de Gaucher: diagnósticos de enfermagem prioritários.

Published in:

Revista Brasileira de Enfermagem, 2018, v. 71, n. 1, p. 113, doi. 10.1590/0034-7167-2016-0434

By:

Koja Breigeiron, Márcia;
da Costa Moraes, Vitória;
Carneiro Coelho, Janice

Publication type:

Article

Signs and symptoms in Gaucher Disease: priority nursing diagnoses.

Published in:

Revista Brasileira de Enfermagem, 2018, v. 71, n. 1, p. 104, doi. 10.1590/0034-7167-2016-0434

By:

Koja Breigeiron, Márcia;
da Costa Moraes, Vitória;
Carneiro Coelho, Janice

Publication type:

Article

Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects).

Published in:

Pakistan Journal of Medical Sciences, 2016, v. 32, n. 2, p. 319, doi. 10.12669/pjms.322.9316

By:

Thejeal, Rabab Farhan;
Kadhum, Ausama Jamal

Publication type:

Article

Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

Published in:

Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9

By:

Puri, Ratna Dua;
Kapoor, Seema;
Kishnani, Priya S.;
Dalal, Ashwin;
Gupta, Neerja;
Muranjan, Mamta;
Phadke, Shubha R.;
Sachdeva, Anupam;
Verma, Ishwar C.;
Mistry, Pramod K.;
Gaucher Disease Task Force

Publication type:

Article

Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.

Published in:

Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00019-6

By:

Dursun, Huseyin;
Yildizhan, Esra;
Bayram, Fahri

Publication type:

Article

Gaucher disease: Recent advances in the diagnosis and management.

Published in:

Medical Journal of Viral Hepatitis, 2022, v. 6, n. 2, p. 6

By:

Hassanin, Fetouh;
Abbas, Azza Hasan;
Schalaan, Mona;
Rabea, Mohamed

Publication type:

Article

Surgery for gastroesophageal reflux disease with Gaucher disease type 2.

Published in:

Pediatrics International, 2016, v. 58, n. 7, p. 610, doi. 10.1111/ped.12851

By:

Kubo, Hiroyuki;
Shimono, Ryuichi;
Tanaka, Aya;
Fujii, Takayuki;
Yasuda, Saneyuki;
Koyano, Kosuke;
Jinnai, Wataru;
Kondo, Sonoko;
Kondo, Takeo;
Kusaka, Takashi

Publication type:

Article

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

Published in:

2015

By:

BenHamida, Emira;
Ayadi, Imene;
Ouertani, Ines;
Chammem, Maroua;
Bezzine, Ahlem;
BenTmime, Riadh;
Attia, Leila;
Mrad, Ridha;
Marrakchi, Zahra

Publication type:

Case Study

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0687-5

By:

Sheth, Jayesh;
Pancholi, Dhairya;
Mistri, Mehul;
Nath, Payal;
Ankleshwaria, Chitra;
Bhavsar, Riddhi;
Puri, Ratna;
Phadke, Shubha;
Sheth, Frenny

Publication type:

Article

Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease.

Published in:

2009

By:

Ben Turkia, Hadhami;
Tebib, N.;
Azzouz, H.;
Abdelmoula, M. S.;
Ben Chehida, A.;
Caillaud, C.;
Ben Dridi, M. F.

Publication type:

Case Study

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls.

Published in:

Life (2075-1729), 2025, v. 15, n. 6, p. 952, doi. 10.3390/life15060952

By:

Becker-Cohen, Michal;
Zimran, Ari;
Dinur, Tama;
Tiomkin, Maayan;
Rolfs, Arndt;
Arkadir, David;
Bauer, Peter;
Shulman, Elena;
Yahalom, Gilad;
Cohen, Mikhal E.;
Manor, Orly;
Paltiel, Ora;
Revel-Vilk, Shoshana

Publication type:

Article

Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.

Published in:

European Radiology, 2013, v. 23, n. 11, p. 3005, doi. 10.1007/s00330-013-2924-9

By:

Razek, Ahmed;
Abdalla, Ahmed;
Gaber, Nahed;
Fathy, Abeer;
Megahed, Ahmed;
Barakat, Tarek;
Alsayed, Mona

Publication type:

Article

Home Enzyme Replacement Therapy in Gaucher Disease: A Review.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 3, p. 842, doi. 10.3390/jcm14030842

By:

Kieć-Wilk, Beata;
Guijt, Paul;
Dan, Michaela;
Abdelwahab, Magy;
Revel-Vilk, Shoshana;
Serratrice, Christine

Publication type:

Article

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1487, doi. 10.3390/jcm13051487

By:

Giacomarra, Miriam;
Colomba, Paolo;
Francofonte, Daniele;
Zora, Marcomaria;
Caocci, Giovanni;
Diomede, Daniela;
Giuffrida, Gaetano;
Fiori, Laura;
Montanari, Chiara;
Sapuppo, Annamaria;
Scortechini, Anna Rita;
Vitturi, Nicola;
Duro, Giovanni;
Zizzo, Carmela

Publication type:

Article

The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2220, doi. 10.3390/jcm12062220

By:

Zimran, Ari;
Szer, Jeff;
Becker-Cohen, Michal;
Jens, Sjoerd;
Cozma, Claudia;
Revel-Vilk, Shoshana

Publication type:

Article

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Published in:

Diseases, 2017, v. 5, n. 1, p. 10, doi. 10.3390/diseases5010010

By:

Lal, Tamanna Roshan;
Sidransky, Ellen

Publication type:

Article

Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl.

Published in:

2024

By:

Mitala, Yekosani;
Birungi, Abraham;
Mushabe, Branchard;
Manzi, John;
Ssenkumba, Brian;
Atwine, Raymond;
Ankunda, Siyadora

Publication type:

Case Study

Molecular basis and clinical management of Gaucher disease.

Published in:

Cardiogenetics, 2013, v. 3, n. 1s, p. 24, doi. 10.4081/cardiogenetics.2013.s1.e4

By:

Di Rocco, Maja;
Loggini, Andrea;
Russo, Pierluigi

Publication type:

Article

Mandibular and dental manifestations of Gaucher disease.

Published in:

Oral Diseases, 2012, v. 18, n. 5, p. 421, doi. 10.1111/j.1601-0825.2011.01898.x

By:

Saranjam, HR;
Sidransky, E;
Levine, WZ;
Zimran, A;
Elstein, D

Publication type:

Article

Screening for Gaucher's disease in unexplained spleenomegaly and/or thrombocytopenia: An observational study.

Published in:

Journal of Medical & Allied Sciences, 2021, v. 11, n. 2, p. 120, doi. 10.5455/jmas.2070

By:

Tak, Himangi;
Gupta, Ashok;
Tak, Himani;
Agarwal, Kamlesh

Publication type:

Article

Challenges in the Diagnosis and Management of Gaucher's Disease in a Young Adult Libyan Arab Female.

Published in:

Ibnosina Journal of Medicine & Biomedical Sciences, 2021, v. 13, n. 4, p. 236, doi. 10.4103/ijmbs.ijmbs_74_21

By:

Fawaris, Nada B.;
Esaadi, Mohamed E.;
Tumi, Ali;
Elhamedi, Aisha M.;
Al Montasir, Ahmed

Publication type:

Article

Challenges in the Diagnosis and Management of Gaucher’s Disease in a Young Adult Libyan Arab Female.

Published in:

Ibnosina Journal of Medicine & Biomedical Sciences, 2021, v. 13, n. 4, p. 236, doi. 10.4103/ijmbs.ijmbs_74_21

By:

Fawaris, Nada B.;
Esaadi, Mohamed E.;
Tumi, Ali;
Elhamedi, Aisha M.;
Al Montasir, Ahmed

Publication type:

Article

Haemorheology in Gaucher disease.

Published in:

European Journal of Haematology, 2005, v. 75, n. 3, p. 252, doi. 10.1111/j.1600-0609.2005.00496.x

By:

Bax, Bridget E.;
Richfield, Linda;
Bain, Murray D.;
Mehta, Atul B.;
Chalmers, Ronald A.;
Rampling, Michael W.

Publication type:

Article

Rebound hepatosplenomegaly in type 1 Gaucher disease.

Published in:

European Journal of Haematology, 2003, v. 70, n. 2, p. 125, doi. 10.1034/j.1600-0609.2003.00010.x

By:

Tóth, Judit;
Erdős, Melinda;
Maródi, László

Publication type:

Article

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Published in:

2020

By:

Di Rocco, Maja;
Di Fonzo, Alessio;
Barbato, Antonio;
Cappellini, Maria Domenica;
Carubbi, Francesca;
Giona, Fiorina;
Giuffrida, Gaetano;
Linari, Silvia;
Pession, Andrea;
Quarta, Antonella;
Scarpa, Maurizio;
Spada, Marco;
Strisciuglio, Pietro;
Andria, Generoso

Publication type:

journal article

Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null RecI Mutations.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 240, doi. 10.2350/09-11-0744-CR.1

By:

GOEBL, APRIL;
FERRIER, RAECHEL A.;
FERREIRA, PATRICK;
PINTO-ROJAS, ALFREDO;
MATSHES, EVAN;
CHOY, FRANCIS Y. M.

Publication type:

Article

Subdural Empyema in a Case of Gaucher Disease: A Rare Presentation.

Published in:

Pediatric Neurosurgery, 2007, v. 43, n. 6, p. 531, doi. 10.1159/000108802

By:

Garg, Anil;
Agrawal, Deepak;
Suri, Ashish;
Mahapatra, A. K.

Publication type:

Article

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 14, doi. 10.3390/ijns11010014

By:

Cazzorla, Chiara;
Gragnaniello, Vincenza;
Gaiga, Giacomo;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Benetti, Giada;
Schiavo, Rossana;
Porcù, Elena;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease.

Published in:

Abdominal Radiology, 2024, v. 49, n. 9, p. 3069, doi. 10.1007/s00261-024-04293-w

By:

Parente, Daniella Braz;
de Melo Malta, Fernanda Chagas Monteiro;
de Souza Cravo, Renata;
Luiz, Ronir Raggio;
Rotman, Vivian;
Perez, Renata Mello;
Rodrigues, Rosana Souza

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

Hemorrhagic Aspects of Gaucher Disease.

Published in:

Rambam Maimonides Medical Journal, 2014, v. 5, n. 4, p. 1, doi. 10.5041/RMMJ.10173

By:

Rosenbaum, Hanna

Publication type:

Article

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.

Published in:

Pharmaceutics, 2025, v. 17, n. 5, p. 650, doi. 10.3390/pharmaceutics17050650

By:

Geard, Amy F.;
Massaro, Giulia;
Hughes, Michael P.;
Arbuthnot, Patrick;
Waddington, Simon N.;
Rahim, Ahad A.

Publication type:

Article

A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy.

Published in:

2021

By:

Komada, Naoto;
Fujiwara, Toshinari;
Yoshizumi, Hideyuki;
Ida, Hiroyuki;
Shimoda, Kazuya

Publication type:

Case Study

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.

Published in:

2018

By:

Amato, Dominick;
Patterson, Mary Anne

Publication type:

journal article

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 975, doi. 10.1038/sj.ejhg.5201251

By:

Church, Heather J;
Cooper, Alan;
Stewart, Fiona;
Thornton, Claire M;
Wraith, J Edmund

Publication type:

Article

Longevity of total hip arthroplasty implants in patients with Gaucher disease.

Published in:

Hip International, 2020, v. 30, n. 2, p. 147, doi. 10.1177/1120700019834919

By:

Cohen, Daniel;
Kogan, Dina;
Rubin, Amir;
Zimran, Ari;
Lebel, Ehud

Publication type:

Article