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2. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Uyama E; Takahashi K; Owada M; Okamura R; Naito M; Tsuji S; Kawasaki S; Araki S Acta Neurol Scand; 1992 Oct; 86(4):407-20. PubMed ID: 1333717 [TBL] [Abstract][Full Text] [Related]
3. Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. Erduran E; Mocan H; Gedik Y; Kamaci R; Okten A; Değer O Genet Couns; 1995; 6(3):211-5. PubMed ID: 8588848 [TBL] [Abstract][Full Text] [Related]
4. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. Inui K; Yanagihara K; Otani K; Suzuki Y; Akagi M; Nakayama M; Ida H; Okada S J Pediatr; 2001 Jan; 138(1):137-9. PubMed ID: 11148530 [TBL] [Abstract][Full Text] [Related]
5. [Corneal opacities and Gaucher's disease. (Apropos of a familial case)]. Boudet C; Costeau J; Raynaud JM Bull Soc Ophtalmol Fr; 1966 Apr; 66(4):443-8. PubMed ID: 5923642 [No Abstract] [Full Text] [Related]
12. Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. Ben Turkia H; Tebib N; Azzouz H; Abdelmoula MS; Ben Chehida A; Caillaud C; Ben Dridi MF J Perinatol; 2009 Feb; 29(2):170-2. PubMed ID: 19177047 [TBL] [Abstract][Full Text] [Related]
13. Communicating hydrocephalus in a patient with Gaucher's disease type 3. Shiihara T; Oka A; Suzaki I; Ida H; Takeshita K Pediatr Neurol; 2000 Mar; 22(3):234-6. PubMed ID: 10734257 [TBL] [Abstract][Full Text] [Related]
14. Gaucher disease with communicating hydrocephalus and cardiac involvement. Cindik N; Ozcay F; Süren D; Akkoyun I; Gökdemir M; Varan B; Alehan F; Ozbek N; Tokel K Clin Cardiol; 2010 Jan; 33(1):E26-30. PubMed ID: 19816973 [TBL] [Abstract][Full Text] [Related]
15. [Clinical and morphological study on 2 cases of Gaucher's disease in 2 subjects from the same family]. Ferreli A; Valdès E; Silvetti M; Biddau P Arch De Vecchi Anat Patol; 1973 Sep; 59(1):1-30. PubMed ID: 4804229 [No Abstract] [Full Text] [Related]
16. [Infantile form of Gaucher's disease]. Stojimirović E; Vuković I Srp Arh Celok Lek; 1972 Sep; 100(9):1099-104. PubMed ID: 4663836 [No Abstract] [Full Text] [Related]
17. [An adult form of type-I. Gaucher's disease]. Múzes G; Pitlik E; Gohér A; Somogyi A; Tulassay Z Orv Hetil; 2000 Mar; 141(13):669-73. PubMed ID: 10774238 [TBL] [Abstract][Full Text] [Related]
18. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement. Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123 [TBL] [Abstract][Full Text] [Related]