Gaucher Disease for Hematologists

Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so...

Full description

Bibliographic Details
Published in:	Turkish Journal of Hematology
Main Authors:	Gül Nihal Özdemir, Eren Gündüz
Format:	Article
Language:	English
Published:	Turkish Society of Hematology 2022-05-01
Subjects:	gaucher disease anemia thrombocytopenia splenomegaly
Online Access:	https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-89983

Similar Items

Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
by: Hussain H. Al Saeed, et al.
Published: (2024-02-01)

Challenges in the diagnosis of gaucher disease with multiple splenic lesions
by: Ahmad Alshomar
Published: (2023-01-01)

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
by: Andrea Pession, et al.
Published: (2023-06-01)

Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China
by: Gulinuer Maimaititusvn, et al.
Published: (2025-09-01)

Gaucher Disease: A First Reported Adult Case in Indonesia
by: Ardhi Rahman Ahani, et al.
Published: (2024-04-01)

Gaucher Disease: A First Reported Adult Case in Indonesia
by: Ardhi Rahman Ahani, et al.
Published: (2024-01-01)

Gaucher Disease: One of the Few Causes of Massive Splenomegaly
by: Magda Garça, et al.
Published: (2022-12-01)

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
by: Didar Yanardağ Açık, et al.
Published: (2020-03-01)

An Intriguing Case of Anaemia and Splenomegaly
by: Erika Poggiali, et al.
Published: (2014-10-01)

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma
by: Gianluca Bossù, et al.
Published: (2023-05-01)

Splenomegaly as a Primary Manifestation of Gaucher Disease in a Young Adult Woman
by: Giuseppe Merra, et al.
Published: (2008-11-01)

Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease
by: Jianfang Zhu, et al.
Published: (2023-03-01)

Rare MPIG6B Gene Mutation in an Indian Male with Anemia and Thrombocytopenia
by: Afaq Ahmad Khan, et al.
Published: (2022-11-01)

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data
by: Tatiana Raskovalova, et al.
Published: (2017-04-01)

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease
by: Lagen Wan, et al.
Published: (2017-11-01)

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
by: Ozlem Goker-Alpan, et al.
Published: (2025-10-01)

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
by: Maja Di Rocco, et al.
Published: (2023-07-01)

Correlation between the values of circulating blood elements with the size of spleen in the presence of schistosomal splenomegaly
by: Leonardo de Souza Vasconcellos, et al.
Published: (2018-12-01)

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy
by: Marta Morado Arias, et al.
Published: (2025-03-01)

Gaucher's disease in children: Case report from Afghanistan with literature review
by: Turyalai Hakimi, et al.
Published: (2023-09-01)

Gaucher Disease and Gaucher Cells
by: Sevgi Gözdaşoğlu
Published: (2015-05-01)

Gaucher Cells or Pseudo-Gaucher Cells: That's the Question
by: Deniz Gören Şahin, et al.
Published: (2014-12-01)

The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
by: Margarita M. Ivanova, et al.
Published: (2024-04-01)

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
by: Patryk Lipiński, et al.
Published: (2024-06-01)

Gaucher's disease - a review of the most important information about the disease in Paediatrics
by: Jakub Jarmołowicz, et al.
Published: (2025-07-01)

Gaucher disease type 2 (case report)
by: D. R. Shagieva, et al.
Published: (2020-09-01)

Gaucher’s Disease – What Should You Know
by: Dominika Podgórska, et al.
Published: (2024-09-01)

Spanish consensus on managing pregnancy in women with Gaucher disease
by: Enrique J. Calderón, et al.
Published: (2025-03-01)

Obstacles to Early Diagnosis of Gaucher Disease
by: Nishimura S, et al.
Published: (2025-01-01)

Gaucher disease – a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies
by: Alicja Kotula, et al.
Published: (2024-10-01)

An Overview of Gaucher Disease
by: Daniela Anahí Méndez-Cobián, et al.
Published: (2024-12-01)

Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease
by: Burcu Berberoğlu-Ateş, et al.
Published: (2019-06-01)

TUBERCULOSIS SACROILITIS WITH COXITIS IN THE PATIENT SUFFERING FROM GAUCHER DISEASE
by: V. A. Khomenko, et al.
Published: (2018-09-01)

A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage
by: Junitsu Ito, et al.
Published: (2013-08-01)

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
by: Ida Vanessa D. Schwartz, et al.
Published: (2018-03-01)

Quantification of glucosylceramide in plasma of Gaucher disease patients
by: Maria Viviane Gomes Muller, et al.
Published: (2010-12-01)

Random skin biopsy for diagnosis of intravascular large B-cell lymphoma in a patient with hypoxemia and normal lung imaging
by: Athiphat Banjongjit, MD, et al.
Published: (2018-03-01)

Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease
by: LI Di, et al.
Published: (2022-07-01)

Skeletal Manifestations in Gaucher Disease: A Case Report
by: Altınay Göksel Karatepe, et al.
Published: (2005-09-01)

Cor pulmonale in a case of infantile Gaucher′s disease
by: Soumya Patra, et al.
Published: (2011-01-01)