-
1
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Beutler E, Gelbart T, Kuhl W, et al (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci U S A 88(23):10544-10547.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, Issue.23
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
-
2
-
-
0026594203
-
Mutations in Jewish patients with Gaucher disease
-
Beutler E, Gelbart T, Kuhl W, et al (1992) Mutations in Jewish patients with Gaucher disease. Blood 79(7):1662-1666.
-
(1992)
Blood
, vol.79
, Issue.7
, pp. 1662-1666
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
-
3
-
-
0038465682
-
Purification and properties of a glucocerebroside-cleaving enzyme from spleen tissue
-
Brady RO, Kanfer J, Shapiro D (1965) Purification and properties of a glucocerebroside-cleaving enzyme from spleen tissue. J Biol Chem 240:39-43.
-
(1965)
J Biol Chem
, vol.240
, pp. 39-43
-
-
Brady, R.O.1
Kanfer, J.2
Shapiro, D.3
-
4
-
-
0030976184
-
Lymphocytopenia in a hospital population-what does it signify?
-
Castelino DJ, McNair P, Kay TW (1997) Lymphocytopenia in a hospital population-what does it signify? Aust N Z J Med 27:170-174.
-
(1997)
Aust N Z J Med
, vol.27
, pp. 170-174
-
-
Castelino, D.J.1
McNair, P.2
Kay, T.W.3
-
5
-
-
0034626360
-
The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
-
Charrow J, et al (2000) The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 160(18):2835-2843.
-
(2000)
Arch Intern Med
, vol.160
, Issue.18
, pp. 2835-2843
-
-
Charrow, J.1
-
6
-
-
0032976666
-
Common variable immunodeficiency: Clinical and immunological features of 248 patients
-
Cunningham-Rundles C, Bodian C (1999) Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92:34-48.
-
(1999)
Clin Immunol
, vol.92
, pp. 34-48
-
-
Cunningham-Rundles, C.1
Bodian, C.2
-
7
-
-
0028003720
-
A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency
-
Fischer MB, Hauber I, Eggenbauer H, et al (1994) A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency. Blood 84:4234-4241.
-
(1994)
Blood
, vol.84
, pp. 4234-4241
-
-
Fischer, M.B.1
Hauber, I.2
Eggenbauer, H.3
-
8
-
-
0019823526
-
Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures
-
Gery I, Zigler JS Jr, Brady RO, Barranger JA (1981) Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 68:1182-1189.
-
(1981)
J Clin Invest
, vol.68
, pp. 1182-1189
-
-
Gery, I.1
Zigler Jr., J.S.2
Brady, R.O.3
Barranger, J.A.4
-
9
-
-
0017656311
-
Differentiation of human lymphocytes by pokeweed mitogen in vitro: Studies in normal and in immunodeficient subjects
-
Hutteroth TH, Litwin SD (1977) Differentiation of human lymphocytes by pokeweed mitogen in vitro: studies in normal and in immunodeficient subjects. Klin Wochenschr 55:743-749.
-
(1977)
Klin Wochenschr
, vol.55
, pp. 743-749
-
-
Hutteroth, T.H.1
Litwin, S.D.2
-
10
-
-
0032972377
-
CD95 expression and function on lymphocyte subpopulations in common variable immunodeficiency (CVID); related to increased apoptosis
-
Iglesias J, Matamoros N, Raga S, Ferrer JM, Mila J (1999) CD95 expression and function on lymphocyte subpopulations in common variable immunodeficiency (CVID); related to increased apoptosis. Clin Exp Immunol 117:138-146.
-
(1999)
Clin Exp Immunol
, vol.117
, pp. 138-146
-
-
Iglesias, J.1
Matamoros, N.2
Raga, S.3
Ferrer, J.M.4
Mila, J.5
-
11
-
-
17644422131
-
Gaucher disease: Pathological mechanisms and modern management
-
Jmoudiak M, Futerman AH (2005) Gaucher disease: pathological mechanisms and modern management. Br J Haematol 129:178-188.
-
(2005)
Br J Haematol
, vol.129
, pp. 178-188
-
-
Jmoudiak, M.1
Futerman, A.H.2
-
12
-
-
33744957572
-
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
-
Kaplan P, Andersson HC, Kacena KA, Yee JD (2006) The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 160:603-608.
-
(2006)
Arch Pediatr Adolesc Med
, vol.160
, pp. 603-608
-
-
Kaplan, P.1
Andersson, H.C.2
Kacena, K.A.3
Yee, J.D.4
-
14
-
-
29944445980
-
French Type 2 Gaucher Disease Study Group: Type 2 Gaucher disease: 15 new cases and review of the literature
-
Mignot C, Doummar D, Maire I, De Villemeur TB (2006) French Type 2 Gaucher Disease Study Group: Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 28:39-48.
-
(2006)
Brain Dev
, vol.28
, pp. 39-48
-
-
Mignot, C.1
Doummar, D.2
Maire, I.3
De Villemeur, T.B.4
-
15
-
-
0021879609
-
Lymphopenia induced by acute bacterial infections in the elderly: A sign of age-related immune dysfunction of major prognostic significance
-
Proust J, Rosenzweig P, Debouzy C, Moulias R (1985) Lymphopenia induced by acute bacterial infections in the elderly: a sign of age-related immune dysfunction of major prognostic significance. Gerontology 31:178-185.
-
(1985)
Gerontology
, vol.31
, pp. 178-185
-
-
Proust, J.1
Rosenzweig, P.2
Debouzy, C.3
Moulias, R.4
-
16
-
-
0020170626
-
Gaucher's disease: A disease with chronic stimulation of the immune system
-
Shoenfeld Y, Gallant LA, Shaklai M, Livni E, Djaldetti M, Pinkhas J (1982) Gaucher's disease: a disease with chronic stimulation of the immune system. Arch Pathol Lab Med 106:388-391.
-
(1982)
Arch Pathol Lab Med
, vol.106
, pp. 388-391
-
-
Shoenfeld, Y.1
Gallant, L.A.2
Shaklai, M.3
Livni, E.4
Djaldetti, M.5
Pinkhas, J.6
-
17
-
-
0027442703
-
Phenotype/genotype correlation in Gaucher's disease: Clinical and therapeutic implications
-
Sibille A, Eng CM, Kim SJ, et al (1993) Phenotype/genotype correlation in Gaucher's disease: clinical and therapeutic implications. Am J Hum Genet 52:1094-1101.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1094-1101
-
-
Sibille, A.1
Eng, C.M.2
Kim, S.J.3
-
18
-
-
0032855421
-
Recovery from lymphocytopenia following extracorporeal circulation: Simple indicator to assess surgical stress
-
Tayama E, Hayashida N, Oda T, et al (1999) Recovery from lymphocytopenia following extracorporeal circulation: simple indicator to assess surgical stress. Artif Organs 23:736-740.
-
(1999)
Artif Organs
, vol.23
, pp. 736-740
-
-
Tayama, E.1
Hayashida, N.2
Oda, T.3
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