Results 121 to 130 of about 2,332 (156)
Gaucher's disease and retinitis pigmentosa : A case report
The Turkish Journal of Gastroenterology, 1998 Nadir KAYA +6 more
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Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. [PDF]
Clin Cases Miner Bone Metab, 2017 Demirci U, Çizmecioglu A, Aydogdu I.
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GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. [PDF]
Mov DisordParlar SC, Lee Y, Gan-Or Z.
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Cor pulmonale in a case of infantile Gaucher's disease.
Indian J Endocrinol Metab, 2011 Patra S +5 more
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Gaucher's disease with uncommon presentations.
J Cytol, 2009 Gupta SS, Mondal P, Basu N, Mallick MG.
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Orthopedics, 1987
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
The Lancet, 2001
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
openaire +3 more sources
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
openaire +3 more sources