-
1
-
-
78349262473
-
Lysosomal storage disease with normal acid maltase
-
Danon MJ, Oh SJ, DiMauro S, Manaligod JE, et al. Lysosomal storage disease with normal acid maltase. Neurology. 1981;3:151-157.
-
(1981)
Neurology
, vol.3
, pp. 151-157
-
-
Danon, M.J.1
Oh, S.J.2
DiMauro, S.3
Manaligod, J.E.4
-
2
-
-
0032497569
-
Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome
-
Morisawa Y, Fujieda M, Murakmi N, et al. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. J Neurol Sci. 1998;160:175-179.
-
(1998)
J. Neurol. Sci.
, vol.160
, pp. 175-179
-
-
Morisawa, Y.1
Fujieda, M.2
Murakmi, N.3
-
3
-
-
0036837231
-
Danons disease X-linked vacuolar cardiomyopathy and myopathy: A case with a novel lamp-2 gene mutation
-
Lacoste-Collin L, Garcia V, Uro-Coste E, et al. Danons disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. Neuromus Disord. 2002;12:882-885.
-
(2002)
Neuromus. Disord.
, vol.12
, pp. 882-885
-
-
Lacoste-Collin, L.1
Garcia, V.2
Uro-Coste, E.3
-
4
-
-
33645454698
-
Generalized lysosomal-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in danon disease
-
Fanin M, Nascimbeni AC, Fulizio L, et al. Generalized lysosomal-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol. 2006;168:1309-1320.
-
(2006)
Am. J. Pathol.
, vol.168
, pp. 1309-1320
-
-
Fanin, M.1
Nascimbeni, A.C.2
Fulizio, L.3
-
5
-
-
17044440789
-
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy andmyopaty danon disease
-
Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy andmyopaty (Danon disease). Nature. 2000;406:906-910.
-
(2000)
Nature
, vol.406
, pp. 906-910
-
-
Nishino, I.1
Fu, J.2
Tanji, K.3
-
6
-
-
59449098330
-
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy
-
Doug N, Joho S, Shan L, et al. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. Circulation. 2009;73:376-380.
-
(2009)
Circulation
, vol.73
, pp. 376-380
-
-
Doug, N.1
Joho, S.2
Shan, L.3
-
7
-
-
0037172851
-
Clinicopathologic features of genetically confirmed danon disease
-
Sugie K, Yamamoto Y, Murayama K, et al. Clinicopathologic features of genetically confirmed Danon disease. Neurology. 2002;58:1773-1778.
-
(2002)
Neurology
, vol.58
, pp. 1773-1778
-
-
Sugie, K.1
Yamamoto, Y.2
Murayama, K.3
-
9
-
-
33646915987
-
Ophthalmic manifestations of danon disease
-
Prall FR, Drack A, Taylor M, et al. Ophthalmic manifestations of Danon disease. Ophthalmology. 2006;113:1010-1013.
-
(2006)
Ophthalmology
, vol.113
, pp. 1010-1013
-
-
Prall, F.R.1
Drack, A.2
Taylor, M.3
-
12
-
-
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). Neuromus Disord. 2005;15:293-298.
-
(2005)
Neuromus. Disord.
, vol.15
, pp. 293-298
-
-
Lobrinus, J.A.1
Schorderet, D.F.2
Payot, M.3
-
13
-
-
67049137233
-
Danon disease: Further clinical and molecular heterogeneity
-
Sabourdy F, Michelakakis H, Anastasakis A, et al. Danon disease: further clinical and molecular heterogeneity. Muscle Nerve. 2009;39:837-844.
-
(2009)
Muscle. Nerve.
, vol.39
, pp. 837-844
-
-
Sabourdy, F.1
Michelakakis, H.2
Anastasakis, A.3
-
14
-
-
0029817411
-
Case report: Lysosomal clycogen storage disease with normal acid maltase: An unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure
-
Tse H-F, Shek TWK, Tai Y-T, Lau Y-K, Ma L. Case report: lysosomal clycogen storage disease with normal acid maltase: An unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure. Am J Med Sci. 1996;12:182-186.
-
(1996)
Am. J. Med. Sci.
, vol.12
, pp. 182-186
-
-
Tse, H.F.1
Shek, T.W.K.2
Tai, Y.T.3
Lau, Y.K.4
Ma, L.5
-
15
-
-
39749129659
-
Danon disease: A novel lamp-2 gene mutation in a family with four affected members
-
Tunon T, Guerrero D, Urchaga A, et al. Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. Neuromus Disord. 2008;18:167-174.
-
(2008)
Neuromus. Disord.
, vol.18
, pp. 167-174
-
-
Tunon, T.1
Guerrero, D.2
Urchaga, A.3
-
16
-
-
0028138320
-
Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patients with danons disease lysosomal glycogen strorage disease without acid maltase deficiency
-
Usuki F, Takenaga S, Higushi I, et al. Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patients with Danons disease (lysosomal glycogen strorage disease without acid maltase deficiency). J Neurol. 1994:127:54-60.
-
(1994)
J. Neurol.
, vol.127
, pp. 54-60
-
-
Usuki, F.1
Takenaga, S.2
Higushi, I.3
-
17
-
-
33845892119
-
Skin biopsy: A useful tool in the diagnosis of lysosomal storage diseases
-
Alroy J, Ucci AA. Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases. Ultrastruct Pathol. 2006;30:489-503.
-
(2006)
Ultrastruct Pathol.
, vol.30
, pp. 489-503
-
-
Alroy, J.1
Ucci, A.A.2
-
18
-
-
35648978228
-
Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease
-
Alroy J, Pfannl R, Ucci A. Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease. Ultrastruct Pathol. 2007;31:1-6.
-
(2007)
Ultrastruct Pathol.
, vol.31
, pp. 1-6
-
-
Alroy, J.1
Pfannl, R.2
Ucci, A.3
-
19
-
-
34848817670
-
Danon disease presented with dilated cardiomyopathy and a complex phenotype
-
Taylor MRG, Ku L, Slavov D, et al. Danon disease presented with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007;52:830-835.
-
(2007)
J. Hum. Genet.
, vol.52
, pp. 830-835
-
-
Taylor, M.R.G.1
Ku, L.2
Slavov, D.3
-
20
-
-
78349287538
-
X-linked vacuolar myopathies
-
Engel AG, Laurea CF-A, eds New York: McGraw-Hill;
-
Banwell B. X-linked vacuolar myopathies. In: Engel AG, Laurea CF-A, eds. Myology: Basic and Clinical. New York: McGraw-Hill; 2004:1163-1168.
-
(2004)
Myology: Basic and Clinical
, pp. 1163-1168
-
-
Banwell, B.1
-
21
-
-
64249134706
-
VMA21 deficiency causes by an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification
-
Ramachandran N, Munteanu I, Wang P, et al. VMA21 deficiency causes by an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell. 2009;137:235-246.
-
(2009)
Cell.
, vol.137
, pp. 235-246
-
-
Ramachandran, N.1
Munteanu, I.2
Wang, P.3
-
22
-
-
33646570214
-
Fabry disease cardiomyopathy: Echocardiographic detection of endomyocardial glycosphingolipid compartmentalization
-
Pironi M, Chimenti C, De Cobelli F, et al. Fabry disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am College Cardiol. 2006:47:1663-1671.
-
(2006)
J. Am. College Cardiol.
, vol.47
, pp. 1663-1671
-
-
Pironi, M.1
Chimenti, C.2
De Cobelli, F.3
-
23
-
-
0029126428
-
A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier
-
Uchino M, Uyama E, Kawano H, et al. A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier. Acta Neuropathol. 1995;90:334-338.
-
(1995)
Acta. Neuropathol
, vol.90
, pp. 334-338
-
-
Uchino, M.1
Uyama, E.2
Kawano, H.3
-
24
-
-
0023205026
-
Lectin histochemistry and ultrastructure of cat kidneys from six different storage diseases
-
Castagnaro M, Alroy J, Ucci AA, Glew RH. Lectin histochemistry and ultrastructure of cat kidneys from six different storage diseases. Virchows Arch B Cell Pathol. 1987;54:16-26.
-
(1987)
Virchows Arch. B. Cell. Pathol.
, vol.54
, pp. 16-26
-
-
Castagnaro, M.1
Alroy, J.2
Ucci, A.A.3
Glew, R.H.4
|