Results 101 to 110 of about 15,263 (240)
, 2012 This thesis is about the disease called Gaucher disease, or Morbus Gaucher. There is described the history of the disease, various forms of disease, effect of bones, visceral organs, hematological changes, changes in metabolism etc.; differential ...
POSPÍŠILOVÁ, Iva
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World Journal of Radiology, 2014 Gaucher disease is the prototypical lysosomal storage disease. It results from the accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver due to deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal maifestions.
William L, Simpson +2 more
openaire +2 more sources
Treatment options for patients with Gaucher disease
Egyptian Journal of Medical Human Genetics, 2016 Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life ...
Rabah M. Shawky, Solaf M. Elsayed
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT In medically complex patients with chronic pain, new or worsening symptoms should prompt careful reassessment. Avascular necrosis, particularly in the setting of prolonged steroid use, may be overlooked due to diagnostic overshadowing. Timely recognition requires multidisciplinary collaboration and vigilance to distinguish acute pathology from
Ji‐Hoon Lee +3 more
wiley +1 more source
Medical Conference: Gaucher\u27s Disease [PDF]
, 1974 The middle-aged man whose case is discussed here harbored Type 7 Gaucher\u27s disease in subtle form. This hereditary disorder was partly disguised by a long history of peptic ulcer.
Weiss, Lester +2 more
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, 2001 Gaucher disease is a rarely seen autosomal recessive disorder associated with enzyme defect. Most commonly seen among Ashkenazian Jewish and its incidence in U.S.A is between 1110.000-20.0000.
Bilgiçli, Nesrin +3 more
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Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes
, 2011 Samantha Kimball1,2, Francis Choy4, Agnes Zay5, Dominick Amato31Department of Nutritional Sciences, University of Toronto, Canada; 2Department of Laboratory Medicine and Pathology, 3Department of Medicine, Division of Hematology, Mt Sinai Hospital ...
Amato, Dominick +7 more
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Where Is the ‘Oma’ in Multiple Myeloma? Origins and Limitations of some Myeloma‐Related Terminology
eJHaem, Volume 7, Issue 3, June 2026.ABSTRACT Background Multiple myeloma, often simply called ‘myeloma’, is a clonal plasma cell malignancy that constitutes about one‐tenth of all cancers managed by haematologists. Although the disease was first clearly described in the first half of the 19th century, it was only called multiple myeloma several decades later.
Jecko Thachil, David P. Steensma
wiley +1 more source
, 1990 Disorder of Horizontal Saccades; 1. Impaired initiation; 2. Slow velocity; 3. Arcuate trajectory; 4. Absent optokinetic nystagmus; Normal Vertical Gaze; Normal PursuitSlow eye movementsThis little boy has Gaucher\u27s disease.
Shirley H. Wray, MD, PhD, FRCP
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