-
1
-
-
0002629236
-
Disorders of carbohydrate metabolism: Glycogen storage diseases
-
Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (editors). Boston: Butterworth-Heinemann
-
DiMauro S, Servidei S, Tsujino S. Disorders of carbohydrate metabolism: glycogen storage diseases. In: The molecular and genetic basis of neurological disease. 2nd edn. Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (editors). Boston: Butterworth-Heinemann; 1997, pp. 1067-1097.
-
(1997)
The Molecular and Genetic Basis of Neurological Disease. 2nd Edn.
, pp. 1067-1097
-
-
DiMauro, S.1
Servidei, S.2
Tsujino, S.3
-
2
-
-
0000171986
-
Glycogen storage diseases
-
Scriver CR, Beaudet AL, Sly WS, Valle D (editors). 7th edn. New York: McGraw-Hill
-
Chen YT, Burchell A. Glycogen storage diseases. In: The metabolic and molecular basis of inherited disease. Scriver CR, Beaudet AL, Sly WS, Valle D (editors). 7th edn. New York: McGraw-Hill, 1995, pp. 935-966.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 935-966
-
-
Chen, Y.T.1
Burchell, A.2
-
3
-
-
15444359932
-
Genotype of adult-onset glycogen storage disease type II in asymptomatic patients
-
Ausems MGEM, van Diggelen OP, Sinke RJ, Reuser AJJ, Wokke JHJ. Genotype of adult-onset glycogen storage disease type II in asymptomatic patients [abstract]. Neurology 1998; 50:A117.
-
(1998)
Neurology
, vol.50
-
-
Ausems, M.G.E.M.1
Van Diggelen, O.P.2
Sinke, R.J.3
Reuser, A.J.J.4
Wokke, J.H.J.5
-
4
-
-
0031905326
-
Muscle computed tomography in adult-onset acid maltase deficiency
-
de Jager AE, van der Vliet TM, van der Ree TC, Oosterink BJ, Loonen MC. Muscle computed tomography in adult-onset acid maltase deficiency. Muscle Nerve 1998; 21:398-400.
-
(1998)
Muscle Nerve
, vol.21
, pp. 398-400
-
-
De Jager, A.E.1
Van Der Vliet, T.M.2
Van Der Ree, T.C.3
Oosterink, B.J.4
Loonen, M.C.5
-
5
-
-
0030936525
-
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency
-
El-Schahawi M, Bruno C, Tsujino S, Sarrazin AM, Shanske S, LeRoux MG, DiMauro S. Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. Neuromusc Disord 1997; 7:81-83.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 81-83
-
-
El-Schahawi, M.1
Bruno, C.2
Tsujino, S.3
Sarrazin, A.M.4
Shanske, S.5
LeRoux, M.G.6
DiMauro, S.7
-
6
-
-
0031660162
-
Forearm semi-ischemic exercise test in pediatric patients
-
Bruno C, Bado M, Minetti C, Cordone G. Forearm semi-ischemic exercise test in pediatric patients. J Child Neurol 1998; 13:288-290.
-
(1998)
J Child Neurol
, vol.13
, pp. 288-290
-
-
Bruno, C.1
Bado, M.2
Minetti, C.3
Cordone, G.4
-
7
-
-
0029054612
-
Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
-
Tsujino S, Shanske S, Carroll JE, Sabina RL, DiMauro S. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromusc Disord 1995; 5: 263-266.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 263-266
-
-
Tsujino, S.1
Shanske, S.2
Carroll, J.E.3
Sabina, R.L.4
DiMauro, S.5
-
8
-
-
0031906409
-
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
-
Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G, DiMauro S: Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 1998; 50:296-298.
-
(1998)
Neurology
, vol.50
, pp. 296-298
-
-
Bruno, C.1
Minetti, C.2
Shanske, S.3
Morreale, G.4
Bado, M.5
Cordone, G.6
DiMauro, S.7
-
9
-
-
0030792783
-
Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: A second case of 'double trouble'
-
Rubio JC, Martin MA, Bautista J, Campos Y, Segura D, Arenas J. Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'. Neuromusc Disord 1997; 7:387-389.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 387-389
-
-
Rubio, J.C.1
Martin, M.A.2
Bautista, J.3
Campos, Y.4
Segura, D.5
Arenas, J.6
-
10
-
-
0026642190
-
Molecular basis of AMP deaminase deficiency in skeletal muscle
-
Morisaki T, Gross M, Morisaki H, Pongratz D, Zollner N, Holmes EW. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Nat Acad Sci USA 1992; 89:6457-6461.
-
(1992)
Proc Nat Acad Sci USA
, vol.89
, pp. 6457-6461
-
-
Morisaki, T.1
Gross, M.2
Morisaki, H.3
Pongratz, D.4
Zollner, N.5
Holmes, E.W.6
-
11
-
-
0023189157
-
McArdle's disease with myoadenylate deaminase deficiency: Observations in a combined enzyme deficiency
-
Heller SL, Kaiser KK, Planer GJ, Hagberg JM, Brooke MH. McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency. Neurology 1987; 37:1039-1042.
-
(1987)
Neurology
, vol.37
, pp. 1039-1042
-
-
Heller, S.L.1
Kaiser, K.K.2
Planer, G.J.3
Hagberg, J.M.4
Brooke, M.H.5
-
12
-
-
6844237685
-
Infantile muscle phosphorylase-b-kinase deficiency. A case report
-
Sahin G, Güngör T, Rettwitz-Volk W, Schlote W, Shin YS, Podskarbi T, Sewell AC. Infantile muscle phosphorylase-b-kinase deficiency. A case report, Neuropediatrics 1998; 29:48-50.
-
(1998)
Neuropediatrics
, vol.29
, pp. 48-50
-
-
Sahin, G.1
Güngör, T.2
Rettwitz-Volk, W.3
Schlote, W.4
Shin, Y.S.5
Podskarbi, T.6
Sewell, A.C.7
-
13
-
-
15844367096
-
Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
-
Kreuder J, Borkhardt A, Repp R, Pekrun A, Gotische B, Gottschalk U, et al. Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med 1996; 334:1100-1104.
-
(1996)
N Engl J Med
, vol.334
, pp. 1100-1104
-
-
Kreuder, J.1
Borkhardt, A.2
Repp, R.3
Pekrun, A.4
Gotische, B.5
Gottschalk, U.6
-
14
-
-
6844254522
-
Generalised glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
-
Bijvoet AGA, van de Kamp EHM, Kroos MA, Ding JH, Yang BZ, Bakker CE, et al. Generalised glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998; 7:53-62. This is the first genetically engineered animal model of a glycogenosis. Homozygous knockout mice show virtually complete and generalized AMO. Although the clinical picture is less dramatic than in humans with Pompe disease, this model will be invaluable in clarifying pathogenetic mechanisms and in developing therapeutic approaches.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 53-62
-
-
Bijvoet, A.G.A.1
Van De Kamp, E.H.M.2
Kroos, M.A.3
Ding, J.H.4
Yang, B.Z.5
Bakker, C.E.6
-
15
-
-
0029037248
-
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in six related Charolais cattle
-
Angelos S, Valberg SJ, Smith BP, McQuarrie PS, Shanske S, Tsujino S. et al. Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in six related Charolais cattle. Muscle Nerve 1995; 18:736-740.
-
(1995)
Muscle Nerve
, vol.18
, pp. 736-740
-
-
Angelos, S.1
Valberg, S.J.2
Smith, B.P.3
McQuarrie, P.S.4
Shanske, S.5
Tsujino, S.6
-
16
-
-
0030774756
-
A splice-site mutation causing ovine McArdle's disease
-
Tan P, Allen JG, Wilton SD, Akkari PA, Huxtable CR, Laing NG. A splice-site mutation causing ovine McArdle's disease. Neuromusc Disord 1997; 7:336-342. This is the second spontaneous animal model of myophosphorylase deficiency (McArdle disease). The ovine model, because of the smaller size of the animal, may be more convenient than the bovine model for therapeutic trials.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 336-342
-
-
Tan, P.1
Allen, J.G.2
Wilton, S.D.3
Akkari, P.A.4
Huxtable, C.R.5
Laing, N.G.6
-
17
-
-
0030064815
-
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease
-
Tsujino S, Shanske S, Valberg SJ, Cardinet GH, Smith BS, DiMauro S. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. Neuromusc Disord 1995; 6:19-26.
-
(1995)
Neuromusc Disord
, vol.6
, pp. 19-26
-
-
Tsujino, S.1
Shanske, S.2
Valberg, S.J.3
Cardinet, G.H.4
Smith, B.S.5
DiMauro, S.6
-
18
-
-
0021964227
-
Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: Increased in vitro and in vivo alkaline fragility of erythrocytes
-
Giger U, Harvey JW, Yamaguchi RA, McNulty PK, Chiapella A, Beutler E. Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: Increased in vitro and in vivo alkaline fragility of erythrocytes. Blood 1985; 65:345-351.
-
(1985)
Blood
, vol.65
, pp. 345-351
-
-
Giger, U.1
Harvey, J.W.2
Yamaguchi, R.A.3
McNulty, P.K.4
Chiapella, A.5
Beutler, E.6
-
19
-
-
0029786218
-
Molecular basis of canine muscle type phosphofructokinase deficiency
-
Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem 1998; 271:20070-20074.
-
(1998)
J Biol Chem
, vol.271
, pp. 20070-20074
-
-
Smith, B.F.1
Stedman, H.2
Rajpurohit, Y.3
Henthorn, P.S.4
Wolfe, J.H.5
Patterson, D.F.6
Giger, U.7
-
20
-
-
0345164365
-
+K -ATPase in McArdle disease
-
+K -ATPase in McArdle disease. Neurology 1998; 50:37-40. This is an elegant demonstration that sodium-potassium ATPase pumps are decreased in muscle from McArdle disease patients, which provides a rational explanation for a number of previously puzzling empirical observations.
-
(1998)
Neurology
, vol.50
, pp. 37-40
-
-
Haller, R.G.1
Clausen, T.2
Vissing, J.3
-
21
-
-
0029849945
-
Linkage of aerobic glycolysis to sodium-potassium transport in rat skeletal muscle
-
James JH, Fang C-H, Schrantz SJ, Hasselgren P-O, Paul RJ, Fischer JE. Linkage of aerobic glycolysis to sodium-potassium transport in rat skeletal muscle. J Clin Invest 1996; 98:2388-2397.
-
(1996)
J Clin Invest
, vol.98
, pp. 2388-2397
-
-
James, J.H.1
Fang, C.-H.2
Schrantz, S.J.3
Hasselgren, P.-O.4
Paul, R.J.5
Fischer, J.E.6
-
22
-
-
0031614593
-
Why do patients with McArdle's disease have decreased exercise capacity?
-
Ruff RL. Why do patients with McArdle's disease have decreased exercise capacity? Neurology 1998; 50:6-7.
-
(1998)
Neurology
, vol.50
, pp. 6-7
-
-
Ruff, R.L.1
-
23
-
-
0032523093
-
Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies
-
Vissing J, Vissing SF, MacLean DA, Saltin B, Quistorff B, Haller RG, Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. J Clin Invest 1998; 101:1654-1660. This is another elegant example of clinical investigation 'exploiting' human metabolic diseases as 'experiments of nature' to answer vexing physiologic questions.
-
(1998)
J Clin Invest
, vol.101
, pp. 1654-1660
-
-
Vissing, J.1
Vissing, S.F.2
MacLean, D.A.3
Saltin, B.4
Quistorff, B.5
Haller, R.G.6
-
24
-
-
0001154148
-
Nonlysosomal glycogenoses
-
Engel AG, Franzini-Armstrong C (editors). New York: McGraw-Hiill
-
DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Myology. 2nd edn. Engel AG, Franzini-Armstrong C (editors). New York: McGraw-Hiill, 1994: pp. 1554-1576.
-
(1994)
Myology. 2nd Edn.
, pp. 1554-1576
-
-
DiMauro, S.1
Tsujino, S.2
-
25
-
-
51249185419
-
Phosphorylase isoenzymes of human brain
-
Bresolin N, Miranda AF, Jacobson M, Lee JH, Capilupi T, DiMauro S. Phosphorylase isoenzymes of human brain. Neurochem Pathol 1983; 1:171-178.
-
(1983)
Neurochem Pathol
, vol.1
, pp. 171-178
-
-
Bresolin, N.1
Miranda, A.F.2
Jacobson, M.3
Lee, J.H.4
Capilupi, T.5
DiMauro, S.6
-
26
-
-
0030950614
-
Increased cerebral glycogen detected by localized 1H-magnetic resonance spectroscopy in a patient with suspected McArdle's disease
-
Salvan AM, Vion-Dury J, Confort-Gouny S, Dano P, Cozzone PJ. Increased cerebral glycogen detected by localized 1H-magnetic resonance spectroscopy in a patient with suspected McArdle's disease. Eur Neurol 1997; 37:251-253. This is a provocative and unexpected observation. If confirmed, it raises the possibility that patients with McArdle disease may have more than a pure myopathy.
-
(1997)
Eur Neurol
, vol.37
, pp. 251-253
-
-
Salvan, A.M.1
Vion-Dury, J.2
Confort-Gouny, S.3
Dano, P.4
Cozzone, P.J.5
-
27
-
-
15444351651
-
The identification of five novel mutations in the lysosomal acid alpha(1,4)glucosidase gene from patients with glycogen storage disease type II
-
Beesley CE, Child AH, Yacoub MH. The identification of five novel mutations in the lysosomal acid alpha(1,4)glucosidase gene from patients with glycogen storage disease type II. Hum Mutat 1997; 11:413.
-
(1997)
Hum Mutat
, vol.11
, pp. 413
-
-
Beesley, C.E.1
Child, A.H.2
Yacoub, M.H.3
-
28
-
-
0032571087
-
Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype
-
Huie ML, Tsujino S, Sklower Brooks S, Engel AG, Elias E, Bonthron DT, et al. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun 1998; 244:921-927.
-
(1998)
Biochem Biophys Res Commun
, vol.244
, pp. 921-927
-
-
Huie, M.L.1
Tsujino, S.2
Sklower Brooks, S.3
Engel, A.G.4
Elias, E.5
Bonthron, D.T.6
-
29
-
-
0030841171
-
A novel acid alpha-glucosidase mutation identified in a pakistani family with glycogen storage disease type II
-
Kroos MA, Waitfield AE, Joose M, Winchester B, Reuser AJJ, MacDermot KD. A novel acid alpha-glucosidase mutation identified in a pakistani family with glycogen storage disease type II. J Inherit Metab Dis 1997; 20:556-558.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 556-558
-
-
Kroos, M.A.1
Waitfield, A.E.2
Joose, M.3
Winchester, B.4
Reuser, A.J.J.5
MacDermot, K.D.6
-
30
-
-
0031577789
-
Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing
-
Hermans MM, van Leenen D, Kroos MA, Reuser AJ. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing. Biochem Biophys Res Commun 1997; 241:414-418.
-
(1997)
Biochem Biophys Res Commun
, vol.241
, pp. 414-418
-
-
Hermans, M.M.1
Van Leenen, D.2
Kroos, M.A.3
Reuser, A.J.4
-
31
-
-
0031021106
-
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype
-
Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ. Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. Hum Mutat 1997, 9:17-22. A nice example of genotype-phenotype correlation in very differently affected members of the same family is presented.
-
(1997)
Hum Mutat
, vol.9
, pp. 17-22
-
-
Kroos, M.A.1
Van Der Kraan, M.2
Van Diggelen, O.P.3
Kleijer, W.J.4
Reuser, A.J.5
-
32
-
-
0030803880
-
Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans
-
Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N. Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans. Hum Mutat 1997; 10:128-134.
-
(1997)
Hum Mutat
, vol.10
, pp. 128-134
-
-
Adams, E.M.1
Becker, J.A.2
Griffith, L.3
Segal, A.4
Plotz, P.H.5
Raben, N.6
-
33
-
-
0031937991
-
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
-
Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat 1998; 11:209-215.
-
(1998)
Hum Mutat
, vol.11
, pp. 209-215
-
-
Hermans, M.M.1
Kroos, M.A.2
Smeitink, J.A.3
Van Der Ploeg, A.T.4
Kleijer, W.J.5
Reuser, A.J.6
-
34
-
-
0030054818
-
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
-
Shen J, Bao Y, Liu H-M, Lee P, Leonard JV, Chen Y-T. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996; 98:352-357.
-
(1996)
J Clin Invest
, vol.98
, pp. 352-357
-
-
Shen, J.1
Bao, Y.2
Liu, H.-M.3
Lee, P.4
Leonard, J.V.5
Chen, Y.-T.6
-
35
-
-
0031980608
-
Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient
-
Parvari R, Shen J, Hershkovitz E, Chen YT, Moses SW. Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. J Inher Metab Dis 1998; 21:141-148.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 141-148
-
-
Parvari, R.1
Shen, J.2
Hershkovitz, E.3
Chen, Y.T.4
Moses, S.W.5
-
36
-
-
15444342323
-
Molecular analysis of glycogen debrancher enzyme gene in glycogen storage disease type IIIa patients
-
Comi GP, Hadjigeorgiou Y, Franceschina L, Bordoni A, Salani S, Nesti S, et al. Molecular analysis of glycogen debrancher enzyme gene in glycogen storage disease type IIIa patients [abstract]. Clin Neuropathol 1998; 17:151.
-
(1998)
Clin Neuropathol
, vol.17
, pp. 151
-
-
Comi, G.P.1
Hadjigeorgiou, Y.2
Franceschina, L.3
Bordoni, A.4
Salani, S.5
Nesti, S.6
-
37
-
-
0025946765
-
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: Possible metabolic cause in two patients
-
Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: possible metabolic cause in two patients. Ann Neurol 1991; 30:655-662.
-
(1991)
Ann Neurol
, vol.30
, pp. 655-662
-
-
Lossos, A.1
Barash, V.2
Soffer, D.3
Argov, Z.4
Gomori, M.5
Ben-Nariah, Z.6
-
38
-
-
0027533038
-
Glycogen branching enzyme deficiency in adult polyglucosan body disease
-
Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 1993; 33:88-93.
-
(1993)
Ann Neurol
, vol.33
, pp. 88-93
-
-
Bruno, C.1
Servidei, S.2
Shanske, S.3
Karpati, G.4
Carpenter, S.5
McKee, D.6
-
39
-
-
15444358283
-
Adult polyglucosan body disease caused by the Tyr329Ser mutation in the glycogen branching enzyme gene in Ashkenazi Jew
-
Lossos A, Meiner Z, Barash V, Soffer D, Abramsky O, Argov Z, Meiner V. Adult polyglucosan body disease caused by the Tyr329Ser mutation in the glycogen branching enzyme gene in Ashkenazi Jew [abstract]. Ann Neurol 1998, 42: 987. This is the first molecular defect in APBD, and one of the first mutations in the branching enzyme gene.
-
(1998)
Ann Neurol
, vol.42
, pp. 987
-
-
Lossos, A.1
Meiner, Z.2
Barash, V.3
Soffer, D.4
Abramsky, O.5
Argov, Z.6
Meiner, V.7
-
40
-
-
0031744739
-
Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation
-
Kubisch C, Wicklein EM, Jentsch TJ. Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Hum Mutat 1998; 12:27-32. This revision of the genomic structure of the myophosphorylase gene simplifies the detection of mutations and will help document the already striking genetic heterogeneity of McArdle disease.
-
(1998)
Hum Mutat
, vol.12
, pp. 27-32
-
-
Kubisch, C.1
Wicklein, E.M.2
Jentsch, T.J.3
-
41
-
-
0027194215
-
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
-
Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993; 329:241-245.
-
(1993)
N Engl J Med
, vol.329
, pp. 241-245
-
-
Tsujino, S.1
Shanske, S.2
DiMauro, S.3
-
42
-
-
0031940193
-
Mutation analysis in myophosphorylase deficiency (McdArdle's disease)
-
Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, et al. Mutation analysis in myophosphorylase deficiency (McdArdle's disease). Ann Neurol 1998; 43: 326-331.
-
(1998)
Ann Neurol
, vol.43
, pp. 326-331
-
-
Vorgerd, M.1
Kubisch, C.2
Burwinkel, B.3
Reichmann, H.4
Mortier, W.5
Tettenborn, B.6
-
43
-
-
0030963038
-
Homozygosity by descent for a rare mutation in the myophosphorylase gene associated with variable phenotype in a Druze family with McArdle disease
-
Iyengar S, Kalinsky H, Weiss S, Korotishevsky M, Sadeh M, Zhao Y, et al. Homozygosity by descent for a rare mutation in the myophosphorylase gene associated with variable phenotype in a Druze family with McArdle disease. J. Med Genet 1997; 34:391-394.
-
(1997)
J. Med Genet
, vol.34
, pp. 391-394
-
-
Iyengar, S.1
Kalinsky, H.2
Weiss, S.3
Korotishevsky, M.4
Sadeh, M.5
Zhao, Y.6
-
44
-
-
0027302919
-
McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
-
Bartram C, Edwards RHT, Clague J, Beynon RJ. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 1993, 2:1291-1293.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1291-1293
-
-
Bartram, C.1
Edwards, R.H.T.2
Clague, J.3
Beynon, R.J.4
-
45
-
-
0030007273
-
Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy
-
Martinuzzi A, Tsujino S, Vergani L, Schievano G, Cadaldini M, Bartoloni L, et al. Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy. J Neurol Sci 1996; 137:14-19.
-
(1996)
J Neurol Sci
, vol.137
, pp. 14-19
-
-
Martinuzzi, A.1
Tsujino, S.2
Vergani, L.3
Schievano, G.4
Cadaldini, M.5
Bartoloni, L.6
-
46
-
-
0031868255
-
Molecular genetic analysis of McArdle's disease in Spanish patients
-
Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, et al. Molecular genetic analysis of McArdle's disease in Spanish patients. Neurology 1998; 51:260-262.
-
(1998)
Neurology
, vol.51
, pp. 260-262
-
-
Andreu, A.L.1
Bruno, C.2
Gamez, J.3
Shanske, S.4
Cervera, C.5
Navarro, C.6
-
47
-
-
0005908871
-
Asymptomatic patient with myophosphorylase deficiency, high CK, and the L.396P mutation
-
Gospe SM, El-Schahawi M, Shanske S, Bruno C, DiMauro S, Hoye E, Walsh DA, Gorin FA. Asymptomatic patient with myophosphorylase deficiency, high CK, and the L.396P mutation [abstract]. Neurology 1997, 48:A320.
-
(1997)
Neurology
, vol.48
-
-
Gospe, S.M.1
El-Schahawi, M.2
Shanske, S.3
Bruno, C.4
DiMauro, S.5
Hoye, E.6
Walsh, D.A.7
Gorin, F.A.8
-
48
-
-
0027938957
-
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
-
Wehner M, Clemens PR, Engel AG, Kilimann MW. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet 1994; 3:1983-1987.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1983-1987
-
-
Wehner, M.1
Clemens, P.R.2
Engel, A.G.3
Kilimann, M.W.4
-
49
-
-
15444360597
-
A novel mutation in a patient with muscle phosphorylase b kinase deficiency
-
in press
-
Bruno C, Manfredi G, Andreu AL, Shanske S, Ilse W, DiMauro S. A novel mutation in a patient with muscle phosphorylase b kinase deficiency. Biochem Biophys Res Comm 1998; (in press).
-
(1998)
Biochem Biophys Res Comm
-
-
Bruno, C.1
Manfredi, G.2
Andreu, A.L.3
Shanske, S.4
Ilse, W.5
DiMauro, S.6
-
50
-
-
0024500528
-
Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency
-
Sugie H, Sugie Y, Nishida M, Ito M, Tsurui S, Suzuki M, et al. Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. J Child Neurol 1989; 4:95-99.
-
(1989)
J Child Neurol
, vol.4
, pp. 95-99
-
-
Sugie, H.1
Sugie, Y.2
Nishida, M.3
Ito, M.4
Tsurui, S.5
Suzuki, M.6
-
51
-
-
0031969489
-
A novel missense mutation (837T →C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency
-
Sugie H, Sugie Y, Ito M, Fukuda T. A novel missense mutation (837T →C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. J Child Neurol 1998; 13:95-97.
-
(1998)
J Child Neurol
, vol.13
, pp. 95-97
-
-
Sugie, H.1
Sugie, Y.2
Ito, M.3
Fukuda, T.4
-
52
-
-
0031942298
-
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle
-
Pauly DF, Johns DC, Matelis LA, Lawrence JH, Byrne BJ, Kessler PD. Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther 1998; 473-480. A promising approach to gene therapy of the devastating infantile form of AMD (Pompe disease) is presented.
-
(1998)
Gene Ther
, pp. 473-480
-
-
Pauly, D.F.1
Johns, D.C.2
Matelis, L.A.3
Lawrence, J.H.4
Byrne, B.J.5
Kessler, P.D.6
-
53
-
-
0032519686
-
Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail
-
Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mitzutani M, Van Hove JLK, Chen YT. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 1998; 101:827-833. An even more promising enzyme replacement therapy approach is presented which has shown clinical improvement in a spontaneous avian animal model of AMD.
-
(1998)
J Clin Invest
, vol.101
, pp. 827-833
-
-
Kikuchi, T.1
Yang, H.W.2
Pennybacker, M.3
Ichihara, N.4
Mitzutani, M.5
Van Hove, J.L.K.6
Chen, Y.T.7
-
54
-
-
0031886065
-
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts
-
Yang HW, Kikuchi T, Hagiwara Y, Mizutani M, Chen YT, Van Hoive JL. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts, Pediatr Res 1998; 43:374-380.
-
(1998)
Pediatr Res
, vol.43
, pp. 374-380
-
-
Yang, H.W.1
Kikuchi, T.2
Hagiwara, Y.3
Mizutani, M.4
Chen, Y.T.5
Van Hoive, J.L.6
-
55
-
-
0030759860
-
Dietary treatment in late-onset acid maltase deficiency
-
Bodamer OAF, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr 1997; 156 (Suppl 1):S39-S42.
-
(1997)
Eur J Pediatr
, vol.156
, Issue.1 SUPPL.
-
-
Bodamer, O.A.F.1
Leonard, J.V.2
Halliday, D.3
-
56
-
-
0031743795
-
Oral branched-chain amino acids do not improve exercise capacity in McArdle's disease
-
in press
-
Haller RG, MacLean D, Vissing S, Vissing J. Oral branched-chain amino acids do not improve exercise capacity in McArdle's disease. Neurology 1998; (in press).
-
(1998)
Neurology
-
-
Haller, R.G.1
MacLean, D.2
Vissing, S.3
Vissing, J.4
-
57
-
-
0000461447
-
Aerobic conditioning: An effective therapy in McArdle's disease
-
Haller RG, Wyrick P, Cavender D, Wall A, Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Neurology 1998; 50:A369.
-
(1998)
Neurology
, vol.50
-
-
Haller, R.G.1
Wyrick, P.2
Cavender, D.3
Wall, A.4
Vissing, J.5
-
58
-
-
0028998401
-
McArdle's disease: Molecular genetics and metabolic consequences of the phenotype
-
Beynon RJ, Bartram C, Hopkins P, Toescu V, Gibson H, Phoenix J, Edwards RHT. McArdle's disease: Molecular genetics and metabolic consequences of the phenotype. Muscle Nerve 1995; (Suppl 3):S18-S22.
-
(1995)
Muscle Nerve
, Issue.3 SUPPL.
-
-
Beynon, R.J.1
Bartram, C.2
Hopkins, P.3
Toescu, V.4
Gibson, H.5
Phoenix, J.6
Edwards, R.H.T.7
-
60
-
-
0028577347
-
Adeno-virus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V
-
Baque S, Newgard CB, Gerard RG, Guinovart JJ, Gomez-Foix AM. Adeno-virus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V. Biochem J 1994; 304:1009-1014.
-
(1994)
Biochem J
, vol.304
, pp. 1009-1014
-
-
Baque, S.1
Newgard, C.B.2
Gerard, R.G.3
Guinovart, J.J.4
Gomez-Foix, A.M.5
-
61
-
-
0031444648
-
Infantile phosphofructokinasedeficiency with arthrogryposis: Clinical benefit of a ketogenic diet
-
Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M. Infantile phosphofructokinasedeficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr 1997; 131:932-934.
-
(1997)
J Pediatr
, vol.131
, pp. 932-934
-
-
Swoboda, K.J.1
Specht, L.2
Jones, H.R.3
Shapiro, F.4
DiMauro, S.5
Korson, M.6
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