-
1
-
-
50549198437
-
Metabolism of glucocerebrosides: Evidence of an enzymatic deficiency in Gaucher disease
-
Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of glucocerebrosides: evidence of an enzymatic deficiency in Gaucher disease. Biochem Biophys Res Commun 18: 221-225
-
(1965)
Biochem Biophys Res Commun
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
2
-
-
0000502209
-
Glucosylceramide lipidoses: Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Barranger JA, Ginns EI (1989) Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1677-1698
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Edn.
, pp. 1677-1698
-
-
Barranger, J.A.1
Ginns, E.I.2
-
3
-
-
0022837350
-
Gaucher disease-Norrbottnian type (III): Neuropediatric and neurobiological aspects of clinical patterns and treatment
-
Erickson A (1986) Gaucher disease-Norrbottnian type (III): neuropediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand [Suppl] 362: 1-42
-
(1986)
Acta Paediatr Scand [Suppl]
, vol.362
, pp. 1-42
-
-
Erickson, A.1
-
4
-
-
0020508736
-
Non-infantile neuronopathic Gaucner's disease: A clinico-pathologic study
-
Winkleman MD, Banker BQ, Victor M, Moser HW (1983) Non-infantile neuronopathic Gaucner's disease: a clinico-pathologic study. Neurology 33: 994-1008
-
(1983)
Neurology
, vol.33
, pp. 994-1008
-
-
Winkleman, M.D.1
Banker, B.Q.2
Victor, M.3
Moser, H.W.4
-
5
-
-
0027451553
-
Isolated horizontal supra-nuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease
-
Patterson MC, Horowitz M, Abel RB, et al (1993) Isolated horizontal supra-nuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease. Neurology 43: 1993-1997
-
(1993)
Neurology
, vol.43
, pp. 1993-1997
-
-
Patterson, M.C.1
Horowitz, M.2
Abel, R.B.3
-
6
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher disease
-
Barton NW, Brady RO, Dambrosia JM, et al (1991) Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher disease. N Engl J Med 324: 1464-1470
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
7
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal DI, Doppelt SH, Mankin HJ, et al (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629-637
-
(1995)
Pediatrics
, vol.96
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
-
8
-
-
0026736574
-
Gaucher disease: Abdominal imaging findings in 46 patients
-
Hill SC, Damaska BM, Ling A, et al (1992) Gaucher disease: abdominal imaging findings in 46 patients. Radiology 184: 561-566
-
(1992)
Radiology
, vol.184
, pp. 561-566
-
-
Hill, S.C.1
Damaska, B.M.2
Ling, A.3
-
9
-
-
0030098841
-
MR imaging of liver cirrhosis
-
Kita K, Kita M, Sato M, Ooshima A, Yamada R (1996) MR imaging of liver cirrhosis. Acta Radiologica 37: 198-203
-
(1996)
Acta Radiologica
, vol.37
, pp. 198-203
-
-
Kita, K.1
Kita, M.2
Sato, M.3
Ooshima, A.4
Yamada, R.5
-
11
-
-
10544225774
-
Primary splenomegaly with a report of three cases occurring in one family
-
Brill NE (1901) Primary splenomegaly with a report of three cases occurring in one family. Am J Med Sci 21: 377-392
-
(1901)
Am J Med Sci
, vol.21
, pp. 377-392
-
-
Brill, N.E.1
-
12
-
-
10544254281
-
A case of "splenomegalie primitif" with involvement of the haemopoietic organs
-
Brill NE (1904) A case of "splenomegalie primitif" with involvement of the haemopoietic organs. Proc NY Pathol Soc 4: 143-149
-
(1904)
Proc NY Pathol Soc
, vol.4
, pp. 143-149
-
-
Brill, N.E.1
-
13
-
-
0007767637
-
Genetics of the sphingolipidoses
-
Aronson SM, Volk BW (eds) Academic Press, New York
-
Knudson AG, Kaplan WD (1962) Genetics of the sphingolipidoses. In: Aronson SM, Volk BW (eds) Cerebral sphingolipidoses. Academic Press, New York, pp 395-411
-
(1962)
Cerebral Sphingolipidoses
, pp. 395-411
-
-
Knudson, A.G.1
Kaplan, W.D.2
-
14
-
-
0027444631
-
The role of neurogenetics in Gaucher's disease
-
Brady RO, Barton NW, Grabowski GE (1993) The role of neurogenetics in Gaucher's disease. Arch Neurol 50: 1212-1224
-
(1993)
Arch Neurol
, vol.50
, pp. 1212-1224
-
-
Brady, R.O.1
Barton, N.W.2
Grabowski, G.E.3
-
15
-
-
0027263071
-
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
-
Beutler E (1993) Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90: 5384-5390
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 5384-5390
-
-
Beutler, E.1
-
17
-
-
0022462206
-
Gaucher disease: Sonographic appearance of the spleen
-
Hill SC, Reinig JW, Barranger JA, et al (1986) Gaucher disease: sonographic appearance of the spleen. Radiology 160: 631-634
-
(1986)
Radiology
, vol.160
, pp. 631-634
-
-
Hill, S.C.1
Reinig, J.W.2
Barranger, J.A.3
-
21
-
-
0026561983
-
Gaucher disease: Plain radiography, US, CT and MR diagnosis of lung, bone and liver lesions
-
Hainaux B, Christophe C, Hanquinet S, Perlmutter N (1992) Gaucher disease: plain radiography, US, CT and MR diagnosis of lung, bone and liver lesions. Pediatr Radiol 22: 78-79
-
(1992)
Pediatr Radiol
, vol.22
, pp. 78-79
-
-
Hainaux, B.1
Christophe, C.2
Hanquinet, S.3
Perlmutter, N.4
-
22
-
-
0029001109
-
Pulmonary Gaucher's disease: High resolution computed tomographic features
-
Tunaci A, Berkman YM, Gorkmen E (1995) Pulmonary Gaucher's disease: high resolution computed tomographic features. Pediatr Radiol 25: 237-238
-
(1995)
Pediatr Radiol
, vol.25
, pp. 237-238
-
-
Tunaci, A.1
Berkman, Y.M.2
Gorkmen, E.3
-
24
-
-
0019070417
-
Erosion of the medial cortex of the proximal humerus
-
Melhem RE, Saber TJ (1980) Erosion of the medial cortex of the proximal humerus. Radiology 137: 77-79
-
(1980)
Radiology
, vol.137
, pp. 77-79
-
-
Melhem, R.E.1
Saber, T.J.2
|