Works matching DE "GAUCHER'S disease diagnosis"

Results: 72

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

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

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Porcù, Elena;
Stornaiuolo, Maria;
Miglioranza, Paolo;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

A case of unusual association of Gaucher's disease with spinal tuberculosis.

Published in:

International Journal of Rheumatic Diseases, 2013, v. 16, n. 3, p. 361, doi. 10.1111/j.1756-185X.2012.01749.x

By:

Pan, Jun;
Sun, Zhi‐Yong;
Ji, Cheng;
Ji, Yi‐Ming;
Yang, Yan;
Yang, Hui‐Lin

Publication type:

Article

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.

Published in:

2018

By:

Zimran, Ari;
Wajnrajch, Michael;
Hernandez, Betina;
Pastores, Gregory M.

Publication type:

journal article

Fat fraction quantification of bone marrow in the lumbar spine using the LiverLab assessment tool in healthy adult volunteers and patients with Gaucher disease.

Published in:

Internal Medicine Journal, 2023, v. 53, n. 7, p. 1163, doi. 10.1111/imj.15858

By:

Gan, Calvin;
Robertson, Patricia L.;
Lai, Jeffrey K. C.;
Szer, Jeff

Publication type:

Article

Cross‐sectional web‐based survey among haematologists and gastroenterologists in Japan to identify the key factors for early diagnosis of Gaucher disease.

Published in:

Internal Medicine Journal, 2023, v. 53, n. 6, p. 930, doi. 10.1111/imj.15790

By:

Yoshimitsu, Makoto;
Ono, Midori;
Inoue, Yoichi;
Sagara, Rieko;
Baba, Terumi;
Fernandez, Jovelle

Publication type:

Article

Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant Gaucher disease.

Published in:

Internal Medicine Journal, 2022, v. 52, n. 5, p. 872, doi. 10.1111/imj.15781

By:

Harel, Reut;
Gavish, Israel;
Aviv, Ariel;
Greenman Maravi, Nofar;
Trougouboff, Philippe;
Zimran, Ari;
Revel‐Vilk, Shoshana

Publication type:

Article

Scoring system to facilitate diagnosis of Gaucher disease.

Published in:

Internal Medicine Journal, 2020, v. 50, n. 12, p. 1538, doi. 10.1111/imj.14942

By:

Mehta, Atul;
Rivero‐Arias, Oliver;
Abdelwahab, Magy;
Campbell, Samantha;
McMillan, Annabel;
Rolfe, Mark J.;
Bright, Jeremy R.;
Kuter, David J.

Publication type:

Article

Corrigendum.

Published in:: 2019
Publication type:: Correction Notice

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative.

Published in:

Internal Medicine Journal, 2019, v. 49, n. 5, p. 578, doi. 10.1111/imj.14156

By:

Mehta, Atul;
Kuter, David J.;
Salek, Sam S.;
Belmatoug, Nadia;
Bembi, Bruno;
Bright, Jeremy;
vom Dahl, Stephan;
Deodato, Federica;
Di Rocco, Maja;
Göker‐Alpan, Ozlem;
Hughes, Derralynn A.;
Lukina, Elena A.;
Machaczka, Maciej;
Mengel, Eugen;
Nagral, Aabha;
Nakamura, Kimitoshi;
Narita, Aya;
Oliveri, Beatriz;
Pastores, Gregory;
Pérez‐López, Jordi

Publication type:

Article

Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120194

By:

Zigdon, Hila;
Savidor, Alon;
Levin, Yishai;
Meshcheriakova, Anna;
Schiffmann, Raphael;
Futerman, Anthony H.

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

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

Progression of retinal changes in Gaucher disease: a case report.

Published in:

Eye (0950-222X), 2013, v. 27, n. 11, p. 1331, doi. 10.1038/eye.2013.180

By:

Coussa, R G;
Roos, J C P;
Aroichane, M;
Miron, M-C;
Ospina, L H

Publication type:

Article

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16

By:

Woo, Kyu Ha;
Lee, Beom Hee;
Heo, Sun Hee;
Kim, Jae-Min;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, In-Hee;
Yang, Song Hyun;
Yoo, Han-Wook

Publication type:

Article

Diagnosing Gaucher disease.

Published in:

Clinical Pediatrics, 1995, v. 34, n. 7, p. 365, doi. 10.1177/000992289503400705

By:

Sidransky, Ellen;
Tayebi, Nahid

Publication type:

Article

Are There Neurological Symptoms in Type 1 of Gaucher Disease?

Published in:

Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 99

By:

ALAEI, Mohammadreza;
JAFARI, Narjes;
ROHANI, Farzaneh;
AHMADABADI, Farzad;
AZADI, Rezvan

Publication type:

Article

Diagnostic Methods for Gaucher Disease.

Published in:

2015

By:

SALEHPOUR, Shadab

Publication type:

Abstract

Gaucher disease.

Published in:

International Journal of Child Health & Human Development, 2020, v. 13, n. 2, p. 161

By:

Hershkop, Eliyakim;
Kurolap, Alina;
Feldman, Hagit Baris

Publication type:

Article

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.

Published in:

International Journal of Neuroscience, 2016, v. 126, n. 5, p. 415, doi. 10.3109/00207454.2015.1023436

By:

Han, Fabin;
Grimes, David A.;
Li, Fang;
Wang, Ting;
Yu, Zhe;
Song, Na;
Wu, Shichao;
Racacho, Lemuel;
Bulman, Dennis E.

Publication type:

Article

Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases.

Published in:

Folia Histochemica et Cytobiologica, 2011, v. 49, n. 2, p. 352, doi. 10.5603/FHC.2011.0048

By:

Sokołowska, Bożena;
Skomra, Danuta;
Czartoryska, Barbara;
Tomczak, Waldemar;
Tylki-Szymańska, Anna;
Gromek, Tomasz;
Dmoszyńska, Anna

Publication type:

Article

Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease.

Published in:

Malaysian Journal of Medical Sciences, 2014, v. 21, n. 3, p. 89

By:

Kalayci, Tugce Ozlem;
Erdem, Gulnur;
Kutlu, Ramazan;
Kahraman, Aysegül;
Alkan, Alpay

Publication type:

Article

Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease.

Published in:

Pediatric Cardiology, 2010, v. 31, n. 1, p. 30, doi. 10.1007/s00246-009-9538-7

By:

Greenwood, Allen;
Altarescu, Gheona;
Zimran, Ari;
Elstein, Deborah

Publication type:

Article

Platelet Counts and Interleukin-6 (IL-6) Promoter Polymorphism in Patients with Gaucher Disease.

Published in:

Hematology, 2003, v. 8, n. 6, p. 367, doi. 10.1080/10245330310001621297

By:

Elstein, Deborah;
Altarescu, Gheona;
Zimran, Ari

Publication type:

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

Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease.

Published in:

Pediatrics International, 2017, v. 59, n. 5, p. 636, doi. 10.1111/ped.13247

By:

Adachi, Hiroyuki;
Noguchi, Atsuko;
Ota, Shozo;
Takahashi, Tsutomu;
Nanjo, Hiroshi

Publication type:

Article

Prenatal diagnosis of Gaucher disease using next-generation sequencing.

Published in:

Pediatrics International, 2016, v. 58, n. 9, p. 946, doi. 10.1111/ped.13069

By:

Yoshida, Shinichiro;
Kido, Jun;
Matsumoto, Shirou;
Momosaki, Ken;
Mitsubuchi, Hiroshi;
Shimazu, Tomoyuki;
Sugawara, Keishin;
Endo, Fumio;
Nakamura, Kimitoshi

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

Gaucher disease.

Published in:: JAMA: Journal of the American Medical Association, 1996, v. 275, n. 7, p. 548
Publication type:: Article

Evaluation of the Relationship Between Jaw Involvement and Systemic Involvement in Type 1 Gaucher Disease.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2021, v. 25, n. 3, p. 261, doi. 10.25179/tjem.2021-82213

By:

AŞANTOĞROL, Firdevs;
DURSUN, Hüseyin;
CANGER, Emin Murat;
BAYRAM, Fahri

Publication type:

Article

Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170268

By:

Kallemeijn, Wouter W.;
Scheij, Saskia;
Hoogendoorn, Sascha;
Witte, Martin D.;
Herrera Moro Chao, Daniela;
van Roomen, Cindy P. A. A.;
Ottenhoff, Roelof;
Overkleeft, Herman S.;
Boot, Rolf G.;
Aerts, Johannes M. F. G.

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

Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening.

Published in:

JAMA Pediatrics, 2018, v. 172, n. 7, p. 696, doi. 10.1001/jamapediatrics.2018.0263

By:

Hopkins, Patrick V.;
Klug, Tracy;
Vermette, Lacey;
Raburn-Miller, Julie;
Kiesling, Jami;
Rogers, Sharmini

Publication type:

Article

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.

Published in:

Molecular Neurodegeneration, 2018, v. 12, p. 1, doi. 10.1186/s13024-017-0233-5

By:

Yun, Seung Pil;
Kim, Donghoon;
Kim, Sangjune;
Kim, SangMin;
Karuppagounder, Senthilkumar S.;
Kwon, Seung-Hwan;
Lee, Saebom;
Kam, Tae-In;
Lee, Suhyun;
Ham, Sangwoo;
Park, Jae Hong;
Dawson, Valina L.;
Dawson, Ted M.;
Lee, Yunjong;
Ko, Han Seok

Publication type:

Article

Osteopontin: a potential biomarker of Gaucher disease.

Published in:

Annals of Hematology, 2015, v. 94, n. 7, p. 1119, doi. 10.1007/s00277-015-2354-7

By:

Vairo, Filippo;
Sperb-Ludwig, Fernanda;
Wilke, Matheus;
Michellin-Tirelli, Kristiane;
Netto, Cristina;
Neto, Eurico;
Schwartz, Ida

Publication type:

Article

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Published in:

2015

By:

Zeevi, David A.;
Altarescu, Gheona;
Weinberg-Shukron, Ariella;
Zahdeh, Fouad;
Dinur, Tama;
Chicco, Gaya;
Herskovitz, Yair;
Renbaum, Paul;
Elstein, Deborah;
Levy-Lahad, Ephrat;
Rolfs, Arndt;
Zimran, Ari

Publication type:

journal article

Aortic and Mitral Valve Stenosis with Regurgitation: Not Due to Rheumatic Heart Disease.

Published in:

Echocardiography, 2011, v. 28, n. 2, p. E24, doi. 10.1111/j.1540-8175.2010.01253.x

By:

Talluto, Christopher J.;
Silverman, Norman H.

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

PATIENTS WITH GAUCHER DISEASE: RESULTS OF LONG FOLLOW UP.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, v. 40, n. 1, p. S23

By:

Orucov, Elvin;
Canda, Ebru;
Çoker, Mahmut

Publication type:

Article

Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 675, doi. 10.1007/s10897-017-0161-0

By:

Mulhern, Maureen;
Bier, Louise;
Balwani, Manisha;
Alcalay, Roy N.

Publication type:

Article

Diagnosis of severe Type 1 Gaucher’s disease before irreversible damage occurs : is HDL cholesterol the answer?

Published in:

2010

By:

Cohen, Ian J.;
Yaniv, Isaac;
Baris, Hagit

Publication type:

Letter

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.

Published in:

British Journal of Haematology, 2009, v. 147, n. 4, p. 561, doi. 10.1111/j.1365-2141.2009.07872.x

By:

Mistry, Pramod K.;
Deegan, Patrick;
Vellodi, Ashok;
Cole, J. Alexander;
Yeh, Michael;
Weinreb, Neal J.

Publication type:

Article

Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.

Published in:

Children, 2024, v. 11, n. 8, p. 960, doi. 10.3390/children11080960

By:

Di Costanzo, Margherita;
de Paulis, Nicoletta;
Cannalire, Giuseppe;
Morelli, Nicola;
Biasucci, Giacomo

Publication type:

Article

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.

Published in:

Children, 2023, v. 10, n. 5, p. 869, doi. 10.3390/children10050869

By:

Bossù, Gianluca;
Pedretti, Laura;
Bertolini, Lorenzo;
Esposito, Susanna

Publication type:

Article

Inborn Errors of Metabolism in Elderly Adults.

Published in:

2016

By:

Fouchard, Audrey‐Anne;
Corcia, Philippe;
Allais, Christine;
Blasco, Helene;
De Toffol, Bertrand;
Maillot, François

Publication type:

Letter to the Editor

Successful Desensitization to Imiglucerase of an Adult Patient Diagnosed with Type I Gaucher Disease.

Published in:

International Archives of Allergy & Immunology, 2013, v. 160, n. 2, p. 215, doi. 10.1159/000339754

By:

Erdoğdu, Derya;
Gelincik, aslı;
Canbaz, Bülent;
Colakoğlu, Bahattin;
Büyüköztürk, Suna;
Tanakol, Refik

Publication type:

Article

Molecular probes: Getting lucky in the lysosome.

Published in:

Nature Chemical Biology, 2010, v. 6, n. 12, p. 881, doi. 10.1038/nchembio.470

By:

Goddard-Borger, Ethan D;
Wennekes, Tom;
Withers, Stephen G

Publication type:

Article

Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset.

Published in:

International Journal of Translational Medicine, 2022, v. 2, n. 3, p. 506, doi. 10.3390/ijtm2030037

By:

Revel-Vilk, Shoshana;
Chodick, Gabriel;
Shalev, Varda;
Lotan, Roni;
Zarakowska, Kaja;
Gadir, Noga

Publication type:

Article