Results 51 to 60 of about 12,191 (186)
Histopathology, EarlyView.This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow +3 more
wiley +1 more source
Haematologica, 2008 Background Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy.
Maja Di Rocco +7 more
doaj +1 more source
ICSH Guidance on Bone Marrow Examination and Reporting
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber +6 more
wiley +1 more source
Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases
Folia Histochemica et Cytobiologica, 2011 The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined.
Maja Di Rocco +13 more
doaj +1 more source
Medicine and pharmacy reports, 2021 Gaucher disease is a lysosomal storage disease affecting the bone marrow, spleen, liver, and nervous system. In Romania we follow up over 70 adult patients with Gaucher disease, who benefit from fully covered therapy. There is a need to screen for Gaucher disease, to diagnose early the condition and to use the best available therapy.
openaire +2 more sources
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
Gaucher disease causing sudden cardiac death
The Egyptian Heart Journal, 2016 A 17-year-old male patient with Gaucher disease was presented to our institution complaining of rapid irregular palpitations. Echocardiography showed the presence of critical aortic stenosis due to Gaucher disease.
Yehia Saleh +4 more
doaj +1 more source
The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, EarlyView.Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
Parkinson disease in Gaucher disease
Journal of Clinical Movement Disorders, 2017 Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.We report two patients with GD that developed PD at different disease stages.We reviewed the literature on the coexistence of PD ...
Rodriguez-Porcel, Federico +2 more
openaire +2 more sources