Results 81 to 90 of about 5,176,506 (186)
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease [PDF]
, 2013 Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD).
Houlden, H +17 more
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The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, Volume 604, Issue 21, Page 8690-8701, 1 November 2026.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
Frontiers in Genetics, 2014 Gaucher’s disease is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalysis the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose.
Madhumathi eManickam +4 more
doaj +1 more source
Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature
, 2009 Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases.
Schüpbach, Michaël +25 more
core +1 more source
Pathology of Gaucher's Disease [PDF]
, 2018 A review of the pathology of t 2 cases of non-neuronopathic type Gaucher's disease, diagnosed over a 38-year period, t 935 to 1973, is presented. One of these patients is described in detail and an unusual association with a splenic epidermoid cyst in an
Kahn, LB, Kahn, L.B.
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, 1992 A case of Gaucher's disease diagnosed by means of fine needle aspiration of the liver and spleen in a 12-month-old boy with hepatosplenomegaly is presented.
Domanski, H., Ljung, R., Dejmek, A.
core +1 more source
Mitral valve prolapse and mitral insufficiency in two siblings with Gaucher's disease
, 2000 Gaucher's disease is an autosomal recessive storage disorder. This article reports two siblings with Gaucher's disease, both of which had mitral valve prolapse and mitral insufficiency.
Gokce, M. +5 more
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Role of Partial Splenectomy in Gaucher's Disease in Resource Challenged Nations. [PDF]
J Indian Assoc Pediatr Surg, 2023 Santanakrishnan R +4 more
europepmc +1 more source
An Overview of Gaucher Disease
DiagnosticsBackground: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow.
Daniela Anahí Méndez-Cobián +8 more
openaire +3 more sources
Gaucher's Disease in Southern Africa
, 2018 A review of the clinical features of Gaucher's disease is presented, with particular reference to 17 patients in South Africa. The management, prognosis, mode of inheritance and genetic risks are discussed. It is estimated that there may be as many as 50
Beighton, P +3 more
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