-
1
-
-
0001211738
-
Glucosylceramide lipidosis: Gaucher's disease
-
Scriver CR, Beudet AL, Sly WS, Valle D, eds, 7th ed. New York McGraw-Hill
-
Beutler E, Grabowski GA. Glucosylceramide lipidosis: Gaucher's disease. In: Scriver CR, Beudet AL, Sly WS, Valle D, eds.: The Metabolic Basis of Inherited Disease, 7th ed. New York McGraw-Hill 1995; 2641-2670.
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004;83:6-15.
-
(2004)
Mol Genet Metab
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
3
-
-
0026451024
-
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: A new syndrome associated with β-glucocerebrosidase deficiency and a mosaic population of storage cells
-
Uyama E, Takahashi K, Owada M, Okamura R, Naito M, et al.: Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with β-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand. 1992;86:407-420.
-
(1992)
Acta Neurol Scand
, vol.86
, pp. 407-420
-
-
Uyama, E.1
Takahashi, K.2
Owada, M.3
Okamura, R.4
Naito, M.5
-
4
-
-
0033032247
-
Gaucher's disease with valve calcification: Possible role of Gaucher cells, bone matrix proteins and integrins
-
Veinot JP, Elstein D, Hanania D, Abrahamov A, Srivatsa S, et al.: Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins. Can J Cardiol. 1999;15:211-216.
-
(1999)
Can J Cardiol
, vol.15
, pp. 211-216
-
-
Veinot, J.P.1
Elstein, D.2
Hanania, D.3
Abrahamov, A.4
Srivatsa, S.5
-
5
-
-
0016716506
-
Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction
-
Becker AE, Schoorl R, Balk AG, van der Heide RM. Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol. 1975;36:829-835.
-
(1975)
Am J Cardiol
, vol.36
, pp. 829-835
-
-
Becker, A.E.1
Schoorl, R.2
Balk, A.G.3
van der Heide, R.M.4
-
6
-
-
0036435467
-
Cardiac structural involvement in mucopolysaccharidoses
-
Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology. 2002;98:18-20.
-
(2002)
Cardiology
, vol.98
, pp. 18-20
-
-
Rigante, D.1
Segni, G.2
-
8
-
-
0035140227
-
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, et al.: A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr. 2001;138:37-39.
-
(2001)
J Pediatr
, vol.138
, pp. 37-39
-
-
Inui, K.1
Yanagihara, K.2
Otani, K.3
Suzuki, Y.4
Akagi, M.5
-
9
-
-
0034015095
-
Communicating hydocephalus in a patient with Gaucher disease type 3
-
Shiihara T, Oka A, Suzaki I, Ida H, Takeshita K: Communicating hydocephalus in a patient with Gaucher disease type 3. Ped Neurol. 2000;22:234-236.
-
(2000)
Ped Neurol
, vol.22
, pp. 234-236
-
-
Shiihara, T.1
Oka, A.2
Suzaki, I.3
Ida, H.4
Takeshita, K.5
-
10
-
-
0029144034
-
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
-
Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, et al.: Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet. 1995;346: 1000-1003.
-
(1995)
Lancet
, vol.346
, pp. 1000-1003
-
-
Abrahamov, A.1
Elstein, D.2
Gross-Tsur, V.3
Farber, B.4
Glaser, Y.5
-
11
-
-
0026542861
-
Gaucher's disease with mitral and aortic involvement: Echocardiographic findings
-
Saraçlar M, Atalay S, Koçak N, Özkutlu S. Gaucher's disease with mitral and aortic involvement: echocardiographic findings. Pediatr Cardiol. 1991;13:56-58.
-
(1991)
Pediatr Cardiol
, vol.13
, pp. 56-58
-
-
Saraçlar, M.1
Atalay, S.2
Koçak, N.3
Özkutlu, S.4
-
12
-
-
0029076238
-
Unusual expression of Gaucher's disease: Cardiovascular calcifications in three sibs homozygous for the D409H mutation
-
Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, et al.: Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet. 1995;32:740-742.
-
(1995)
J Med Genet
, vol.32
, pp. 740-742
-
-
Chabas, A.1
Cormand, B.2
Grinberg, D.3
Burguera, J.M.4
Balcells, S.5
-
14
-
-
0035005865
-
Severe valvular and aortic arch calsification in a patient with Gaucher's disease homozygous for the D409H mutation
-
George R, McMohan J, Lytle B, Clark B, Lichtin A: Severe valvular and aortic arch calsification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet. 2001;59: 360-363.
-
(2001)
Clin Genet
, vol.59
, pp. 360-363
-
-
George, R.1
McMohan, J.2
Lytle, B.3
Clark, B.4
Lichtin, A.5
-
15
-
-
0035049241
-
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
-
Altarescu G, Hill S, Wiggs E, Jeffries N, Kreps C, et al.: The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr. 2001;138: 539-47.
-
(2001)
J Pediatr
, vol.138
, pp. 539-547
-
-
Altarescu, G.1
Hill, S.2
Wiggs, E.3
Jeffries, N.4
Kreps, C.5
|