-
1
-
-
0031973893
-
Cellular pathology of lysosomal storage disorders
-
Walkley SU. Cellular pathology of lysosomal storage disorders. Brain Pathol. 1998;8:175-193.
-
(1998)
Brain Pathol.
, vol.8
, pp. 175-193
-
-
Walkley, S.U.1
-
2
-
-
14144255733
-
Lysosomal storage disorders
-
Vellodi A. Lysosomal storage disorders. Br J Haematol. 2004;128:413-431.
-
(2004)
Br. J. Haematol.
, vol.128
, pp. 413-431
-
-
Vellodi, A.1
-
3
-
-
8544278534
-
Storage diseases
-
Papadimitriou JM, Henderson DW, Spagnolo DV, eds, New York: Churchill Livingstone
-
Dustin P. Storage diseases. In: Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Diagnostic Ultrastructure of Non-neoplastic Disease. New York: Churchill Livingstone; 1992:110-132.
-
(1992)
Diagnostic Ultrastructure of Non-neoplastic Disease
, pp. 110-132
-
-
Dustin, P.1
-
4
-
-
36348943468
-
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
-
Burrow T, Hopkin R. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007;19:628-635.
-
(2007)
Curr. Opin. Pediatr.
, vol.19
, pp. 628-635
-
-
Burrow, T.1
Hopkin, R.2
-
5
-
-
0036356689
-
Lysosomes and lysosomal storage diseases
-
Germani DP. Lysosomes and lysosomal storage diseases. J Soc Biol. 2002;196:127-134.
-
(2002)
J. Soc. Biol.
, vol.196
, pp. 127-134
-
-
Germani, D.P.1
-
6
-
-
0023481725
-
Electron Microscopy in the diagnosis of lysosomal storage diseases
-
Vogler C, Rosemberg HS. Electron Microscopy in the diagnosis of lysosomal storage diseases. Am J Med Genet Suppl. 1987;3:243-255.
-
(1987)
Am. J. Med. Genet. Suppl.
, vol.3
, pp. 243-255
-
-
Vogler, C.1
Rosemberg, H.S.2
-
7
-
-
0018852295
-
Electron microscopy: A method for the diagnosis of inherited metabolic storage diseases. Electron microscopy in diagnosis
-
Spycher MA. Electron microscopy: a method for the diagnosis of inherited metabolic storage diseases. Electron microscopy in diagnosis. Pathol Res Pract. 1980;167:118-135.
-
(1980)
Pathol. Res. Pract.
, vol.167
, pp. 118-135
-
-
Spycher, M.A.1
-
8
-
-
0030923274
-
Role of electron microscopy in the diagnosis of metabolic storage diseases affecting the nervous system of children
-
Mierau GW, Weeks DA. Role of electron microscopy in the diagnosis of metabolic storage diseases affecting the nervous system of children. Ultrastruct Pathol. 1997;21:345-354.
-
(1997)
Ultrastruct. Pathol.
, vol.21
, pp. 345-354
-
-
Mierau, G.W.1
Weeks, D.A.2
-
9
-
-
0026536265
-
The ultrastructural spectrum of lysosomal storage diseases
-
Iancu TC. The ultrastructural spectrum of lysosomal storage diseases. Ultrastruct Pathol. 1992;16:231-244.
-
(1992)
Ultrastruct. Pathol.
, vol.16
, pp. 231-244
-
-
Iancu, T.C.1
-
10
-
-
33845892119
-
Skin biopsy: A useful tool in the diagnosis of lysosomal storage disease
-
Alroy J, Ucci AA. Skin biopsy: a useful tool in the diagnosis of lysosomal storage disease. Ultrastruct Pathol. 2006;30:489-503.
-
(2006)
Ultrastruct. Pathol.
, vol.30
, pp. 489-503
-
-
Alroy, J.1
Ucci, A.A.2
-
11
-
-
49149087397
-
Current strategies in the management of lysosomal storage diseases
-
Bryce A, Heese MA. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008;15:119-126.
-
(2008)
Semin. Pediatr. Neurol.
, vol.15
, pp. 119-126
-
-
Bryce, A.1
Heese, M.A.2
-
12
-
-
28844455008
-
Electron microscopy in neuromuscular disorders
-
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF. Electron microscopy in neuromuscular disorders. Ultrastruct Pathol. 2005;29:437-450.
-
(2005)
Ultrastruct Pathol.
, vol.29
, pp. 437-450
-
-
Fernandez, C.1
Figarella-Branger, D.2
Meyronet, D.3
Cassote, E.4
Tong, S.5
Pellissier, J.F.6
-
14
-
-
33746530058
-
Sporadic inclusion body myositis-diagnosis, pathogenesis and therapeutic strategies
-
Dalakas MC. Sporadic inclusion body myositis-diagnosis, pathogenesis and therapeutic strategies. Nature. 2006;2:437-447.
-
(2006)
Nature
, vol.2
, pp. 437-447
-
-
Dalakas, M.C.1
-
17
-
-
46449126749
-
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
-
Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I. Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord. 2008;18:521-529.
-
(2008)
Neuromuscul. Disord.
, vol.18
, pp. 521-529
-
-
Malicdan, M.C.1
Noguchi, S.2
Nonaka, I.3
Saftig, P.4
Nishino, I.5
-
19
-
-
20344406224
-
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies
-
Sugie K, Noguchi S, Kozuka Y, et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol. 2005;64:513-522.
-
(2005)
J. Neuropathol. Exp. Neurol.
, vol.64
, pp. 513-522
-
-
Sugie, K.1
Noguchi, S.2
Kozuka, Y.3
-
20
-
-
23044457739
-
Familial X-linked cardiomyopathy (Danon disease): Diagnostic confirmation by mutation analysis of the LAMP2gene
-
Balmer C, Ball Hausen D, Bosshard NU, et al. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr. 2005;164:509-514.
-
(2005)
Eur. J. Pediatr.
, vol.164
, pp. 509-514
-
-
Balmer, C.1
Hausen, D.B.2
Bosshard, N.U.3
-
21
-
-
15944392098
-
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
-
Lobrinus JA, Schorderet DF, Payot M, et al. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Neuromuscul Disord. 2005;15:293-298.
-
(2005)
Neuromuscul. Disord.
, vol.15
, pp. 293-298
-
-
Lobrinus, J.A.1
Schorderet, D.F.2
Payot, M.3
-
22
-
-
0035537929
-
The role of renal biopsy in the diagnosis of Fabry's disease
-
Frascà GM, Canova C, Preda P, et al. The role of renal biopsy in the diagnosis of Fabry's disease. Contrib Nephrol. 2001;136:211-215.
-
(2001)
Contrib. Nephrol.
, vol.136
, pp. 211-215
-
-
Frascà, G.M.1
Canova, C.2
Preda, P.3
-
23
-
-
1042265181
-
Current state of clinical and morphological features in human NCL
-
Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004;14:61-69.
-
(2004)
Brain Pathol.
, vol.14
, pp. 61-69
-
-
Goebel, H.H.1
Wisniewski, K.E.2
-
24
-
-
0035112124
-
Neuronal ceroid lipofuscinoses: An ultrastructural, genetic and clinical study report
-
Boldrini R, Biselli R, Santorelli FM, Bosman C. Neuronal ceroid lipofuscinoses: an ultrastructural, genetic and clinical study report. Ultrastruct Pathol. 2001;25:51-58.
-
(2001)
Ultrastruct Pathol.
, vol.25
, pp. 51-58
-
-
Boldrini, R.1
Biselli, R.2
Santorelli, F.M.3
Bosman, C.4
-
25
-
-
62949156035
-
Secondary lipid accumulation in lysosomal disease
-
Walkley SU, Vanier MT. Secondary lipid accumulation in lysosomal disease. Biochim Biophys Acta. 2009;1793:726-736.
-
(2009)
Biochim Biophys. Acta
, vol.1793
, pp. 726-736
-
-
Walkley, S.U.1
Vanier, M.T.2
|