-
1
-
-
34447113521
-
Advances in the understanding of inherited renal diseases
-
Davison AM (ed): London, Baillière Tindall
-
Grünfeld JP, Noël LH, Bobrie G, Ferran C, Albouze G, Charbonneau R, Lockwood CM, Savage COS, Bachner L, Kaplan JC, Hors-Cayla MC, Szpiro-Tapia S: Advances in the understanding of inherited renal diseases; in Davison AM (ed): Nephrology. London, Baillière Tindall, 1988, pp 637- 660.
-
(1988)
Nephrology
, pp. 637-660
-
-
Grünfeld, J.P.1
Noël, L.H.2
Bobrie, G.3
Ferran, C.4
Albouze, G.5
Charbonneau, R.6
Lockwood, C.M.7
Savage, C.O.S.8
Bachner, L.9
Kaplan, J.C.10
Hors-Cayla, M.C.11
Szpiro-Tapia, S.12
-
2
-
-
9244254883
-
Inherited disorders of the kidney: The application of modern molecular genetics
-
Raine AEG (ed): Oxford, Oxford University Press
-
Morgan SH: Inherited disorders of the kidney: The application of modern molecular genetics; in Raine AEG (ed): Advanced Renal Medicine. Oxford, Oxford University Press, 1992, pp 163-174.
-
(1992)
Advanced Renal Medicine
, pp. 163-174
-
-
Morgan, S.H.1
-
4
-
-
0019427530
-
Light- and electron-microscopic histochemistry of Fabry's disease
-
Farraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick J: Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981;103: 247-262.
-
(1981)
Am J Pathol
, vol.103
, pp. 247-262
-
-
Farraggiana, T.1
Churg, J.2
Grishman, E.3
Strauss, L.4
Prado, A.5
Bishop, D.F.6
Schuchman, E.7
Desnick, J.8
-
5
-
-
0037703417
-
Fabry disease: α-galactosidase deficiency; Schindler disease: α-N-acetylgalactosaminidase deficiency
-
Scriver CR, Beaudet AI, Sly WS, Valle D (eds): New York, McGraw-Hill
-
Desnick RJ, Bishop DF: Fabry disease: α-galactosidase deficiency; Schindler disease: α-N-acetylgalactosaminidase deficiency; in Scriver CR, Beaudet AI, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, pp 1751-1796.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 1751-1796
-
-
Desnick, R.J.1
Bishop, D.F.2
-
6
-
-
0001125489
-
The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xq locus
-
Opitz JM, Stiles FC, Wise D, Race RR, Sanger R, Von Gemmingen GR, Kierland RR, Cross EG, DeGroot WP: The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xq locus. Am J Hum Gen 1965;17:325-342.
-
(1965)
Am J Hum Gen
, vol.17
, pp. 325-342
-
-
Opitz, J.M.1
Stiles, F.C.2
Wise, D.3
Race, R.R.4
Sanger, R.5
Von Gemmingen, G.R.6
Kierland, R.R.7
Cross, E.G.8
DeGroot, W.P.9
-
7
-
-
0008805394
-
Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis
-
Leder AA, Bosworth WC: Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis. Am J Med 1965;38:814-819.
-
(1965)
Am J Med
, vol.38
, pp. 814-819
-
-
Leder, A.A.1
Bosworth, W.C.2
-
8
-
-
0014171084
-
Angiokeratoma corporis diffusum: Fabry's disease
-
Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Thölen H: Angiokeratoma corporis diffusum: Fabry's disease. Helv Med Acta 1967;34:67.
-
(1967)
Helv Med Acta
, vol.34
, pp. 67
-
-
Colombi, A.1
Kostyal, A.2
Bracher, R.3
Gloor, F.4
Mazzi, R.5
Thölen, H.6
-
9
-
-
9244265659
-
L'atteinte rénale au cours de la maladie de Fabry
-
Hamburgher J, Cosneir J, Grünfeld JP (eds): Paris, Flammarion
-
Grünfeld JP: L'atteinte rénale au cours de la maladie de Fabry; in Hamburgher J, Cosneir J, Grünfeld JP (eds): Néphrologie. Paris, Flammarion, 1979, pp 689-696.
-
(1979)
Néphrologie
, pp. 689-696
-
-
Grünfeld, J.P.1
-
10
-
-
0021856677
-
Diagnostic value of kidney biopsy in heterozygous Fabry's disease
-
Farge D, Nadler S, Wolfe LS: Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol 1985;109:85-88.
-
(1985)
Arch Pathol
, vol.109
, pp. 85-88
-
-
Farge, D.1
Nadler, S.2
Wolfe, L.S.3
-
11
-
-
0017872842
-
Early renal changes in hemizygous and heterozygous patients with Fabry's disease
-
Gubler MC, Lenoir G, Grünfeld JP: Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978;13:223-235.
-
(1978)
Kidney Int
, vol.13
, pp. 223-235
-
-
Gubler, M.C.1
Lenoir, G.2
Grünfeld, J.P.3
-
12
-
-
0000889058
-
α-Galactosidase deficiency. Fabry disease
-
Scriver CR, Baudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase deficiency. Fabry disease; in Scriver CR, Baudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 7. New York, McGraw-Hill, 1995, pp 2741-2784.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, Ed 7
, pp. 2741-2784
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
13
-
-
0025090042
-
A case of Fabry disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by ser
-
Koide T, Ishiura M, Iwai K: A case of Fabry disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. FEBS Lett 1990;259:353-356.
-
(1990)
FEBS Lett
, vol.259
, pp. 353-356
-
-
Koide, T.1
Ishiura, M.2
Iwai, K.3
-
14
-
-
0026506110
-
Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
-
Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 1992;89:29-32.
-
(1992)
Hum Genet
, vol.89
, pp. 29-32
-
-
Ishii, S.1
Sakuraba, H.2
Suzuki, Y.3
-
15
-
-
0028181097
-
Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6
-
Ishii S, Kase R, Sakuraba H: Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1994;1204:265-270.
-
(1994)
Biochim Biophys Acta
, vol.1204
, pp. 265-270
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
-
16
-
-
9244220588
-
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure
-
Van Loo A, Vanholder R, Madsen K, Praet M, Kint J, De Paepe A, Messiaen L, Lameire N, Hasholt L, Sørensen S, Ringoir S: Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure. Am J Nephrol 1996;16:352-357.
-
(1996)
Am J Nephrol
, vol.16
, pp. 352-357
-
-
Van Loo, A.1
Vanholder, R.2
Madsen, K.3
Praet, M.4
Kint, J.5
De Paepe, A.6
Messiaen, L.7
Lameire, N.8
Hasholt, L.9
Sørensen, S.10
Ringoir, S.11
-
17
-
-
0034614125
-
Clinical features of and recent advances in therapy for Fabry disease
-
Brady RO, Schiffmann R: Clinical features of and recent advances in therapy for Fabry disease. J Am Med Assoc 2000;284:2771-2775.
-
(2000)
J Am Med Assoc
, vol.284
, pp. 2771-2775
-
-
Brady, R.O.1
Schiffmann, R.2
|