-
1
-
-
0034457289
-
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms
-
Aasly J., van Diggelen O.P., Boer A.M., et al. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol 7 (2000) 111-113
-
(2000)
Eur J Neurol
, vol.7
, pp. 111-113
-
-
Aasly, J.1
van Diggelen, O.P.2
Boer, A.M.3
-
2
-
-
0019130991
-
Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein
-
Agamanolis D.P., Askari A.D., DiMauro S., et al. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein. Muscle Nerve 3 (1980) 456-467
-
(1980)
Muscle Nerve
, vol.3
, pp. 456-467
-
-
Agamanolis, D.P.1
Askari, A.D.2
DiMauro, S.3
-
3
-
-
0036167225
-
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
-
Arad M., Benson D.W., Perez-Atayde A.R., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109 (2002) 357-362
-
(2002)
J Clin Invest
, vol.109
, pp. 357-362
-
-
Arad, M.1
Benson, D.W.2
Perez-Atayde, A.R.3
-
4
-
-
19944434362
-
Glycogen storage diseases presenting as hypertrophic cardiomyopathy
-
Arad M., Maron B.J., Gorham J.M., et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. New Engl J Med 352 (2005) 362-372
-
(2005)
New Engl J Med
, vol.352
, pp. 362-372
-
-
Arad, M.1
Maron, B.J.2
Gorham, J.M.3
-
5
-
-
0032848015
-
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling
-
Ausems M.G., Verbiest J., Hermans M.P., et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 7 (1999) 713-716
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 713-716
-
-
Ausems, M.G.1
Verbiest, J.2
Hermans, M.P.3
-
6
-
-
0030032758
-
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme
-
Bao Y., Kishnani P., Tang T.T., et al. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme. J Clin Invest 97 (1996) 941-948
-
(1996)
J Clin Invest
, vol.97
, pp. 941-948
-
-
Bao, Y.1
Kishnani, P.2
Tang, T.T.3
-
7
-
-
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 R., Clague J., et al. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 2 (1993) 1291-1293
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1291-1293
-
-
Bartram, C.1
Edwards, R.2
Clague, J.3
-
8
-
-
0029965060
-
A mild adult myopathic variant of type IV glycogenosis
-
Bornemann A., Besser R., Shin Y.S., et al. A mild adult myopathic variant of type IV glycogenosis. Neuromuscul Disord 6 (1996) 95-99
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 95-99
-
-
Bornemann, A.1
Besser, R.2
Shin, Y.S.3
-
9
-
-
0020514477
-
Muscle phosphoglycerate mutase (PGAM) deficiency: a second case
-
Bresolin N., Ro Y.I., Reyes M., et al. Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. Neurology 33 (1983) 1049-1053
-
(1983)
Neurology
, vol.33
, pp. 1049-1053
-
-
Bresolin, N.1
Ro, Y.I.2
Reyes, M.3
-
10
-
-
0032575672
-
A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy
-
Bruno C., Manfredi G., Andreu A.L., et al. A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy. Biochem Biophys Res Commun 249 (1998) 648-651
-
(1998)
Biochem Biophys Res Commun
, vol.249
, pp. 648-651
-
-
Bruno, C.1
Manfredi, G.2
Andreu, A.L.3
-
11
-
-
4644372268
-
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
-
Bruno C., van Diggelen O.P., Cassandrini D., et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63 (2004) 1053-1058
-
(2004)
Neurology
, vol.63
, pp. 1053-1058
-
-
Bruno, C.1
van Diggelen, O.P.2
Cassandrini, D.3
-
12
-
-
0345708450
-
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene
-
Burwinkel B., Rootwelt T., Kvittingen E.A., et al. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Pediat Res 54 (2003) 834-839
-
(2003)
Pediat Res
, vol.54
, pp. 834-839
-
-
Burwinkel, B.1
Rootwelt, T.2
Kvittingen, E.A.3
-
13
-
-
0041308311
-
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases
-
Burwinkel B., Hu B., Schroers A., et al. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur J Hum Genet 11 (2003) 516-526
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 516-526
-
-
Burwinkel, B.1
Hu, B.2
Schroers, A.3
-
14
-
-
18944396765
-
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency
-
Burwinkel B., Scott J.W., Buhrer C., et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 76 (2005) 1034-1049
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1034-1049
-
-
Burwinkel, B.1
Scott, J.W.2
Buhrer, C.3
-
15
-
-
0141618459
-
Mutations in NHLRC1 cause progressive myoclonus epilepsy
-
Chan E.M., Young E.J., Ianzano L., et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genet 35 (2003) 125-127
-
(2003)
Nature Genet
, vol.35
, pp. 125-127
-
-
Chan, E.M.1
Young, E.J.2
Ianzano, L.3
-
16
-
-
3543124150
-
Progressive myoclonus epilepsy with polyglucosans (Lafora disease). Evidence for a third locus
-
Chan E.M., Omer S., Ahmed M., et al. Progressive myoclonus epilepsy with polyglucosans (Lafora disease). Evidence for a third locus. Neurology 63 (2004) 565-567
-
(2004)
Neurology
, vol.63
, pp. 565-567
-
-
Chan, E.M.1
Omer, S.2
Ahmed, M.3
-
17
-
-
16544376476
-
Progressive myoclonus epilpsies: EPM1, EPM2A, EPM2B
-
Chan E.M., Andrade D.M., Franceschetti S., et al. Progressive myoclonus epilpsies: EPM1, EPM2A, EPM2B. Adv Neurol 95 (2005) 47-57
-
(2005)
Adv Neurol
, vol.95
, pp. 47-57
-
-
Chan, E.M.1
Andrade, D.M.2
Franceschetti, S.3
-
18
-
-
0000171986
-
Glycogen storage diseases
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York, NY
-
Chen Y.T. Glycogen storage diseases. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease Vol. 1 (2001), McGraw-Hill, New York, NY 1521-1551
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, vol.1
, pp. 1521-1551
-
-
Chen, Y.T.1
-
19
-
-
0028352694
-
Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens
-
Cohen-Solal M., Valentin C., Plassa F., et al. Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens. Blood 84 (1994) 898-903
-
(1994)
Blood
, vol.84
, pp. 898-903
-
-
Cohen-Solal, M.1
Valentin, C.2
Plassa, F.3
-
20
-
-
0034909902
-
B-enolase deficiency, a new metabolic myopathy of distal glycolysis
-
Comi G.P., Fortunato F., Lucchiari S., et al. B-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol 50 (2001) 202-207
-
(2001)
Ann Neurol
, vol.50
, pp. 202-207
-
-
Comi, G.P.1
Fortunato, F.2
Lucchiari, S.3
-
21
-
-
67649315711
-
Myoglobinuria and myopathies of storage disease
-
Conn R.B. (Ed), Saunders, Philadelphia, PA
-
DiMauro S. Myoglobinuria and myopathies of storage disease. In: Conn R.B. (Ed). Current Diagnosis (1985), Saunders, Philadelphia, PA 1037-1042
-
(1985)
Current Diagnosis
, pp. 1037-1042
-
-
DiMauro, S.1
-
22
-
-
0018423953
-
Debrancher deficiency: neuromuscular disorder in five adults
-
DiMauro S., Hartwig G.B., Hays A.P., et al. Debrancher deficiency: neuromuscular disorder in five adults. Ann Neurol 5 (1979) 422-436
-
(1979)
Ann Neurol
, vol.5
, pp. 422-436
-
-
DiMauro, S.1
Hartwig, G.B.2
Hays, A.P.3
-
23
-
-
37049183458
-
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy
-
DiMauro S., Miranda A.F., Khan S., et al. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science 212 (1981) 1277-1279
-
(1981)
Science
, vol.212
, pp. 1277-1279
-
-
DiMauro, S.1
Miranda, A.F.2
Khan, S.3
-
24
-
-
0020049982
-
Muscle phosphoglycerate mutase deficiency
-
DiMauro S., Miranda A.F., Olarte M., et al. Muscle phosphoglycerate mutase deficiency. Neurology 32 (1982) 584-591
-
(1982)
Neurology
, vol.32
, pp. 584-591
-
-
DiMauro, S.1
Miranda, A.F.2
Olarte, M.3
-
25
-
-
0020689478
-
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria
-
DiMauro S., Dalakas M., and Miranda A.F. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol 13 (1983) 11-19
-
(1983)
Ann Neurol
, vol.13
, pp. 11-19
-
-
DiMauro, S.1
Dalakas, M.2
Miranda, A.F.3
-
27
-
-
16444386608
-
Nonlysosomal glycogenoses
-
Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
-
DiMauro S., Hays A.P., and Tsujino S. Nonlysosomal glycogenoses. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology Vol. II (2004), McGraw-Hill, New York 1535-1558
-
(2004)
Myology
, vol.II
, pp. 1535-1558
-
-
DiMauro, S.1
Hays, A.P.2
Tsujino, S.3
-
28
-
-
0029809426
-
Diagnosis of McArdle's disease by molecular genetic analysis of blood
-
El-Schahawi M., Tsujino S., Shanske S., et al. Diagnosis of McArdle's disease by molecular genetic analysis of blood. Neurology 47 (1996) 579-580
-
(1996)
Neurology
, vol.47
, pp. 579-580
-
-
El-Schahawi, M.1
Tsujino, S.2
Shanske, S.3
-
29
-
-
0030936525
-
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency
-
El-Schahawi M., Bruno C., Tsujino S., et al. Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. Neuromuscul Disord 7 (1997) 81-83
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 81-83
-
-
El-Schahawi, M.1
Bruno, C.2
Tsujino, S.3
-
30
-
-
0001216507
-
Acid maltase deficiency
-
Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
-
Engel A.G., Hirschhorn R., and Huie M. Acid maltase deficiency. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology Vol. 2 (2004), McGraw-Hill, New York 1559-1586
-
(2004)
Myology
, vol.2
, pp. 1559-1586
-
-
Engel, A.G.1
Hirschhorn, R.2
Huie, M.3
-
31
-
-
0032716152
-
Die Glykogenose Typ IV seltene Ursache einer Kardiomyopathie - Bericht einer erfolgreichen Herztransplantation
-
Ewert R., Gulijew A., Wensel R., et al. Die Glykogenose Typ IV seltene Ursache einer Kardiomyopathie - Bericht einer erfolgreichen Herztransplantation. Z Kardiol 88 (1999) 850-856
-
(1999)
Z Kardiol
, vol.88
, pp. 850-856
-
-
Ewert, R.1
Gulijew, A.2
Wensel, R.3
-
32
-
-
0013899226
-
Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide
-
Farrans V.J., Hibbs R.G., Walsh J.J., et al. Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Am J Cardiol 17 (1966) 457-469
-
(1966)
Am J Cardiol
, vol.17
, pp. 457-469
-
-
Farrans, V.J.1
Hibbs, R.G.2
Walsh, J.J.3
-
33
-
-
0020514667
-
An adult case of Andersen's disease - type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study
-
Ferguson I.T., Mahon M., and Cumming W.J. An adult case of Andersen's disease - type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study. J Neurol Sci 60 (1983) 337-351
-
(1983)
J Neurol Sci
, vol.60
, pp. 337-351
-
-
Ferguson, I.T.1
Mahon, M.2
Cumming, W.J.3
-
34
-
-
0345659221
-
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease
-
Fernandez-Cadenas I., Andreu A.L., Gamez J., et al. Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. Neurology 61 (2003) 1432-1434
-
(2003)
Neurology
, vol.61
, pp. 1432-1434
-
-
Fernandez-Cadenas, I.1
Andreu, A.L.2
Gamez, J.3
-
35
-
-
0015172007
-
Myoclonic epilepsy with Lafora bodies
-
Gambetti P.L., DiMauro S., Hirt L., et al. Myoclonic epilepsy with Lafora bodies. Arch Neurol 25 (1971) 483-493
-
(1971)
Arch Neurol
, vol.25
, pp. 483-493
-
-
Gambetti, P.L.1
DiMauro, S.2
Hirt, L.3
-
36
-
-
0032829329
-
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene
-
Hadjigeorgiou G.M., Kawashima N., Bruno C., et al. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord 9 (1999) 399-402
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 399-402
-
-
Hadjigeorgiou, G.M.1
Kawashima, N.2
Bruno, C.3
-
37
-
-
8644273315
-
Late-onset Pompe disease primarily affects quality of life in physical health domains
-
Hagemans M.L.C., Janssens A., Winkel L.P.F., et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 63 (2004) 1688-1692
-
(2004)
Neurology
, vol.63
, pp. 1688-1692
-
-
Hagemans, M.L.C.1
Janssens, A.2
Winkel, L.P.F.3
-
38
-
-
21144449402
-
Disease severity in children and adults with Pompe disease related to age and disease duration
-
Hagemans M.L.C., Winkel L.P.F., Hop W.C.J., et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 64 (2005) 2139-2141
-
(2005)
Neurology
, vol.64
, pp. 2139-2141
-
-
Hagemans, M.L.C.1
Winkel, L.P.F.2
Hop, W.C.J.3
-
39
-
-
0033922177
-
Treatment of McArdle disease
-
Haller R.G. Treatment of McArdle disease. Arch Neurol 57 (2000) 923-924
-
(2000)
Arch Neurol
, vol.57
, pp. 923-924
-
-
Haller, R.G.1
-
40
-
-
0026065196
-
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency
-
Haller R.G., and Lewis S.F. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. New Engl J Med 324 (1991) 364-369
-
(1991)
New Engl J Med
, vol.324
, pp. 364-369
-
-
Haller, R.G.1
Lewis, S.F.2
-
41
-
-
0036716959
-
Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease
-
Haller R.G., and Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease. Arch Neurol 59 (2002) 1395-1402
-
(2002)
Arch Neurol
, vol.59
, pp. 1395-1402
-
-
Haller, R.G.1
Vissing, J.2
-
42
-
-
16444373335
-
Functional evaluation of metabolic myopathies
-
Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
-
Haller R.G., and Vissing J. Functional evaluation of metabolic myopathies. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology Vol. 1 (2004), McGraw-Hill, New York 665-679
-
(2004)
Myology
, vol.1
, pp. 665-679
-
-
Haller, R.G.1
Vissing, J.2
-
43
-
-
0347722567
-
No spontaneous second wind in muscle phosphofructokinase deficiency
-
Haller R.G., and Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 62 (2004) 82-86
-
(2004)
Neurology
, vol.62
, pp. 82-86
-
-
Haller, R.G.1
Vissing, J.2
-
44
-
-
0034646435
-
Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation
-
Hamano T., Mutoh T., Sugie H., et al. Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. Neurology 54 (2000) 1188-1190
-
(2000)
Neurology
, vol.54
, pp. 1188-1190
-
-
Hamano, T.1
Mutoh, T.2
Sugie, H.3
-
45
-
-
0019613898
-
Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy
-
Hays A.P., Hallett M., Delfs J., et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology 31 (1981) 1077-1086
-
(1981)
Neurology
, vol.31
, pp. 1077-1086
-
-
Hays, A.P.1
Hallett, M.2
Delfs, J.3
-
46
-
-
0036221990
-
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
-
Horinishi A., Okubo M., Tang N.L., et al. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J Hum Genet 47 (2002) 55-59
-
(2002)
J Hum Genet
, vol.47
, pp. 55-59
-
-
Horinishi, A.1
Okubo, M.2
Tang, N.L.3
-
47
-
-
0029010023
-
Lactate dehydrogenase M-subunit deficiency: clinical features, metabolic background, and genetic heterogeneities
-
Kanno T., and Maekawa M. Lactate dehydrogenase M-subunit deficiency: clinical features, metabolic background, and genetic heterogeneities. Muscle Nerve Suppl. 3 (1995) S54-S60
-
(1995)
Muscle Nerve
, Issue.SUPPL. 3
-
-
Kanno, T.1
Maekawa, M.2
-
48
-
-
0019200918
-
Hereditary deficiency of lactate dehydrogenase M-subunit
-
Kanno T., Sudo K., Takeuchi I., et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta 108 (1980) 267-276
-
(1980)
Clin Chim Acta
, vol.108
, pp. 267-276
-
-
Kanno, T.1
Sudo, K.2
Takeuchi, I.3
-
51
-
-
0032832799
-
Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis
-
Kiechl S., Willeit J., Vogel W., et al. Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis. Neuromuscul Disord 9 (1999) 408-410
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 408-410
-
-
Kiechl, S.1
Willeit, J.2
Vogel, W.3
-
52
-
-
0021875422
-
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test
-
Kissel J.T., Beam W., Bresolin N., et al. Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. Neurology 35 (1985) 828-833
-
(1985)
Neurology
, vol.35
, pp. 828-833
-
-
Kissel, J.T.1
Beam, W.2
Bresolin, N.3
-
53
-
-
15844367096
-
Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
-
Kreuder J., Borkhardt A., Repp R., et al. Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. New Engl J Med 334 (1996) 1100-1104
-
(1996)
New Engl J Med
, vol.334
, pp. 1100-1104
-
-
Kreuder, J.1
Borkhardt, A.2
Repp, R.3
-
54
-
-
0000665044
-
Über das Vorkommen amyloider Korperchen in Innern der Ganglienzellen
-
Lafora G.R. Über das Vorkommen amyloider Korperchen in Innern der Ganglienzellen. Virchows Arch Pathol Anat 205 (1911) 295-303
-
(1911)
Virchows Arch Pathol Anat
, vol.205
, pp. 295-303
-
-
Lafora, G.R.1
-
55
-
-
33644977251
-
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy and muscular glycogenosis
-
Laforet P., Richard P., Ait Said M., et al. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy and muscular glycogenosis. Ann Neurol 16 (2006) 178-182
-
(2006)
Ann Neurol
, vol.16
, pp. 178-182
-
-
Laforet, P.1
Richard, P.2
Ait Said, M.3
-
56
-
-
8144224418
-
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese
-
Lam C., Lee A., Lam Y., et al. DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. Mol Genet Metab 83 (2004) 271-275
-
(2004)
Mol Genet Metab
, vol.83
, pp. 271-275
-
-
Lam, C.1
Lee, A.2
Lam, Y.3
-
57
-
-
0030945233
-
Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III
-
Lee P.J., Deanfield J.E., Biurch M., et al. Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. Am J Cardiol 79 (1997) 834-838
-
(1997)
Am J Cardiol
, vol.79
, pp. 834-838
-
-
Lee, P.J.1
Deanfield, J.E.2
Biurch, M.3
-
58
-
-
0031770382
-
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene
-
Lossos A., Meiner Z., Barash V., et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 44 (1998) 867-872
-
(1998)
Ann Neurol
, vol.44
, pp. 867-872
-
-
Lossos, A.1
Meiner, Z.2
Barash, V.3
-
59
-
-
2142857791
-
Mutational analysis of the AGL gene: five novel mutations in GSD III patients
-
Lucchiari S., Donati M.A., Melis D., et al. Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum Mutat 23 (2003) 337
-
(2003)
Hum Mutat
, vol.23
, pp. 337
-
-
Lucchiari, S.1
Donati, M.A.2
Melis, D.3
-
60
-
-
0344011481
-
Echo of silence. Silent mutations, RNA splicing, and neuromuscular diseases
-
Mankodi A., and Ashizawa T. Echo of silence. Silent mutations, RNA splicing, and neuromuscular diseases. Neurology 61 (2003) 1330-1331
-
(2003)
Neurology
, vol.61
, pp. 1330-1331
-
-
Mankodi, A.1
Ashizawa, T.2
-
61
-
-
10744222753
-
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease
-
Martin M.A., Rubio J.C., Wevers R.A., et al. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. Ann Hum Genet 68 (2003) 17-22
-
(2003)
Ann Hum Genet
, vol.68
, pp. 17-22
-
-
Martin, M.A.1
Rubio, J.C.2
Wevers, R.A.3
-
62
-
-
0037379666
-
Phenotype modulators in myophosphorylase deficiency
-
Martinuzzi A., Sartori E., Fanin M., et al. Phenotype modulators in myophosphorylase deficiency. Ann Neurol 53 (2003) 497-502
-
(2003)
Ann Neurol
, vol.53
, pp. 497-502
-
-
Martinuzzi, A.1
Sartori, E.2
Fanin, M.3
-
63
-
-
0032726517
-
Liver transplantation for glycogen storage disease types I, III, and IV
-
Matern D., Starzl T.E., Arnaout W., et al. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 158 Suppl 2 (1999) S43-S48
-
(1999)
Eur J Pediatr
, vol.158
, Issue.SUPPL. 2
-
-
Matern, D.1
Starzl, T.E.2
Arnaout, W.3
-
64
-
-
84924923845
-
Myopathy due to a defect in muscle glycogen breakdown
-
McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10 (1951) 13-33
-
(1951)
Clin Sci
, vol.10
, pp. 13-33
-
-
McArdle, B.1
-
65
-
-
0029976221
-
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
-
McConkie-Rosell A., Wilson C., Piccoli D.A., et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis 19 (1996) 51-58
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 51-58
-
-
McConkie-Rosell, A.1
Wilson, C.2
Piccoli, D.A.3
-
66
-
-
0034685949
-
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
-
Milan D., Jeon J., Looft C., et al. A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. Science 288 (2000) 1248-1251
-
(2000)
Science
, vol.288
, pp. 1248-1251
-
-
Milan, D.1
Jeon, J.2
Looft, C.3
-
67
-
-
0015380392
-
Gross cardiac involvement in glycogen storage disease type III
-
Miller C.G., Alleyne G.A., and Brooks S. Gross cardiac involvement in glycogen storage disease type III. Br Heart J 34 (1972) 862-864
-
(1972)
Br Heart J
, vol.34
, pp. 862-864
-
-
Miller, C.G.1
Alleyne, G.A.2
Brooks, S.3
-
68
-
-
0033842001
-
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
-
Minassian B.A., Ianzano L., Meloche M., et al. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology 55 (2000) 341-346
-
(2000)
Neurology
, vol.55
, pp. 341-346
-
-
Minassian, B.A.1
Ianzano, L.2
Meloche, M.3
-
69
-
-
0141428864
-
A novel missense mutation (1060G>C) in the phosphoglycerate kinase gene in a Japanese boy with chronic hemolytic anemia, developmental delay and rhabdomyolysis
-
Morimoto A., Ueda I., Hirashima Y., et al. A novel missense mutation (1060G>C) in the phosphoglycerate kinase gene in a Japanese boy with chronic hemolytic anemia, developmental delay and rhabdomyolysis. Br J Haematol 122 (2003) 1009-1013
-
(2003)
Br J Haematol
, vol.122
, pp. 1009-1013
-
-
Morimoto, A.1
Ueda, I.2
Hirashima, Y.3
-
70
-
-
0036082990
-
The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies
-
Moses S.W., and Parvari R. The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies. Curr Mol Med 2 (2002) 177-188
-
(2002)
Curr Mol Med
, vol.2
, pp. 177-188
-
-
Moses, S.W.1
Parvari, R.2
-
71
-
-
0024383299
-
Cardiac involvement in glycogen storage disease type III
-
Moses S.W., Wanderman K.L., Myroz A., et al. Cardiac involvement in glycogen storage disease type III. Eur J Paed 148 (1989) 764-766
-
(1989)
Eur J Paed
, vol.148
, pp. 764-766
-
-
Moses, S.W.1
Wanderman, K.L.2
Myroz, A.3
-
72
-
-
0025365539
-
Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5′-splice site
-
Nakajima H., Kono N., Yamasaki T., et al. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5′-splice site. J Biol Chem 265 (1990) 9392-9395
-
(1990)
J Biol Chem
, vol.265
, pp. 9392-9395
-
-
Nakajima, H.1
Kono, N.2
Yamasaki, T.3
-
73
-
-
0036083007
-
Phosphofructokinase deficiency: past, present and future
-
Nakajima H., Raben N., Hamaguchi T., et al. Phosphofructokinase deficiency: past, present and future. Curr Mol Med 2 (2002) 197-212
-
(2002)
Curr Mol Med
, vol.2
, pp. 197-212
-
-
Nakajima, H.1
Raben, N.2
Hamaguchi, T.3
-
74
-
-
0042123994
-
A neonatal form of glycogen storage disease type IV
-
Nambu M., Kawabe K., Fukuda T., et al. A neonatal form of glycogen storage disease type IV. Neurology 61 (2003) 392-394
-
(2003)
Neurology
, vol.61
, pp. 392-394
-
-
Nambu, M.1
Kawabe, K.2
Fukuda, T.3
-
75
-
-
0029610362
-
A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy
-
Nase S., Kunze K.P., Sigmund M., et al. A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy. Eur Heart J 16 (1995) 1698-1704
-
(1995)
Eur Heart J
, vol.16
, pp. 1698-1704
-
-
Nase, S.1
Kunze, K.P.2
Sigmund, M.3
-
76
-
-
0030020690
-
Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant
-
Ookawara T., Dave V., Willems P., et al. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Arch Biochem Biophys 327 (1996) 35-40
-
(1996)
Arch Biochem Biophys
, vol.327
, pp. 35-40
-
-
Ookawara, T.1
Dave, V.2
Willems, P.3
-
77
-
-
0019940263
-
Glycogen branching enzyme in Lafora myoclonus epilepsy
-
Ponzetto Zimmerman C., and Gold A.M. Glycogen branching enzyme in Lafora myoclonus epilepsy. Biochem Med 28 (1982) 83-93
-
(1982)
Biochem Med
, vol.28
, pp. 83-93
-
-
Ponzetto Zimmerman, C.1
Gold, A.M.2
-
78
-
-
16544381280
-
Pharmacological and nutritional treatment for McArdle's disease (glycogen storage disease type V)
-
CD003458.
-
Quinlivan R., and Beynon R.J. Pharmacological and nutritional treatment for McArdle's disease (glycogen storage disease type V). The Cochrane Database of Systematic Reviews (2004) CD003458.
-
(2004)
The Cochrane Database of Systematic Reviews
-
-
Quinlivan, R.1
Beynon, R.J.2
-
79
-
-
3142688338
-
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease
-
Quintanas B., Sanchez-Andrade A., Teijera S., et al. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease. Arch Neurol 61 (2004) 1108-1110
-
(2004)
Arch Neurol
, vol.61
, pp. 1108-1110
-
-
Quintanas, B.1
Sanchez-Andrade, A.2
Teijera, S.3
-
80
-
-
0027412471
-
A 5′ splice junction mutation leading to exon deletion in an Ashkenazi Jewish family with phosphofructokinase deficiency (Tarui disease)
-
Raben N., Sherman J., Miller F., et al. A 5′ splice junction mutation leading to exon deletion in an Ashkenazi Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem 268 (1993) 4963-4967
-
(1993)
J Biol Chem
, vol.268
, pp. 4963-4967
-
-
Raben, N.1
Sherman, J.2
Miller, F.3
-
81
-
-
0035954365
-
Surprises of genetic engineering: a possible model of polyglucosan body disease
-
Raben N., Danon M.J., Lu N., et al. Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology 56 (2001) 1739-1745
-
(2001)
Neurology
, vol.56
, pp. 1739-1745
-
-
Raben, N.1
Danon, M.J.2
Lu, N.3
-
83
-
-
0030044866
-
Mitochondrial changes in muscle phosphoglycerate kinase deficiency
-
Schroder J.M., Dodel R., Weis J., et al. Mitochondrial changes in muscle phosphoglycerate kinase deficiency. Clin Neuropath 15 (1996) 34-40
-
(1996)
Clin Neuropath
, vol.15
, pp. 34-40
-
-
Schroder, J.M.1
Dodel, R.2
Weis, J.3
-
84
-
-
0036079985
-
Molecular characterization of glycogen storage disease type III
-
Shen J., and Chen Y. Molecular characterization of glycogen storage disease type III. Curr Mol Med 2 (2002) 167-175
-
(2002)
Curr Mol Med
, vol.2
, pp. 167-175
-
-
Shen, J.1
Chen, Y.2
-
85
-
-
0028100734
-
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenosis VII - and their population frequency
-
Sherman J.B., Raben N., Nicastri C., et al. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenosis VII - and their population frequency. Am J Hum Genet 55 (1994) 305-313
-
(1994)
Am J Hum Genet
, vol.55
, pp. 305-313
-
-
Sherman, J.B.1
Raben, N.2
Nicastri, C.3
-
86
-
-
0033837749
-
Identification of two subtypes of infantile acid maltase deficiency
-
Slonim A.E., Balone L., Ritz S., et al. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 137 (2000) 283-285
-
(2000)
J Pediatr
, vol.137
, pp. 283-285
-
-
Slonim, A.E.1
Balone, L.2
Ritz, S.3
-
87
-
-
0031444648
-
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet
-
Swoboda K.J., Specht L., Jones H.R., et al. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr 131 (1997) 932-934
-
(1997)
J Pediatr
, vol.131
, pp. 932-934
-
-
Swoboda, K.J.1
Specht, L.2
Jones, H.R.3
-
88
-
-
0028355298
-
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis
-
Tang T.T., Segura A.D., Chen Y., et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 87 (1994) 531-536
-
(1994)
Acta Neuropathol
, vol.87
, pp. 531-536
-
-
Tang, T.T.1
Segura, A.D.2
Chen, Y.3
-
89
-
-
0000434711
-
Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis
-
Tarui S., Okuno G., Ikua Y., et al. Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem Biophys Res Commun 19 (1965) 517-523
-
(1965)
Biochem Biophys Res Commun
, vol.19
, pp. 517-523
-
-
Tarui, S.1
Okuno, G.2
Ikua, Y.3
-
90
-
-
12144288681
-
Fatal infantile neuromuscular presentation of glycogen storage disease type IV
-
Tay S.K.H., Akman H.O., Chung W.K., et al. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord 14 (2004) 253-260
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 253-260
-
-
Tay, S.K.H.1
Akman, H.O.2
Chung, W.K.3
-
91
-
-
0025261098
-
Metabolic causes of myoglobinuria
-
Tonin P., Lewis P., Servidei S., et al. Metabolic causes of myoglobinuria. Ann Neurol 27 (1990) 181-185
-
(1990)
Ann Neurol
, vol.27
, pp. 181-185
-
-
Tonin, P.1
Lewis, P.2
Servidei, S.3
-
92
-
-
67649310385
-
Phosphorylase b kinase deficiency in adult-onset myopathy
-
Tonin P., Bruno C., Shanske S., et al. Phosphorylase b kinase deficiency in adult-onset myopathy. Neurology 42 (1992) 387
-
(1992)
Neurology
, vol.42
, pp. 387
-
-
Tonin, P.1
Bruno, C.2
Shanske, S.3
-
93
-
-
0029814303
-
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
-
Toscano A., Tsujino S., Vita G., et al. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve 19 (1996) 1134-1137
-
(1996)
Muscle Nerve
, vol.19
, pp. 1134-1137
-
-
Toscano, A.1
Tsujino, S.2
Vita, G.3
-
94
-
-
0027194215
-
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
-
Tsujino S., Shanske S., and DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). New Engl J Med 329 (1993) 241-245
-
(1993)
New Engl J Med
, vol.329
, pp. 241-245
-
-
Tsujino, S.1
Shanske, S.2
DiMauro, S.3
-
95
-
-
0027495730
-
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency
-
Tsujino S., Shanske S., Sakoda S., et al. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 52 (1993) 472-477
-
(1993)
Am J Hum Genet
, vol.52
, pp. 472-477
-
-
Tsujino, S.1
Shanske, S.2
Sakoda, S.3
-
96
-
-
0028339375
-
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
-
Tsujino S., Shanske S., Goto Y., et al. Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease. Hum Mol Genet 3 (1994) 1005-1006
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1005-1006
-
-
Tsujino, S.1
Shanske, S.2
Goto, Y.3
-
97
-
-
0029054612
-
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
-
Tsujino S., Shanske S., Carroll J.E., et al. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromuscul Disord 5 (1995) 263-266
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 263-266
-
-
Tsujino, S.1
Shanske, S.2
Carroll, J.E.3
-
98
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Hout J., Van der Ploeg A.T., Cromme-Dijkhuis A., et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356 (2000) 397-398
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van den Hout, J.1
Van der Ploeg, A.T.2
Cromme-Dijkhuis, A.3
-
99
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout J., Kamphoven J.H.J., Winkel L.P.F., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113 (2004) e448-e457
-
(2004)
Pediatrics
, vol.113
-
-
Van den Hout, J.1
Kamphoven, J.H.J.2
Winkel, L.P.F.3
-
100
-
-
0347517831
-
The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
-
Vissing J., and Haller R.G. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. New Engl J Med 349 (2003) 2503-2509
-
(2003)
New Engl J Med
, vol.349
, pp. 2503-2509
-
-
Vissing, J.1
Haller, R.G.2
-
101
-
-
0141535342
-
A diagnostic cycle test for McArdle's disease
-
Vissing J., and Haller R.G. A diagnostic cycle test for McArdle's disease. Ann Neurol 4 (2003) 539-542
-
(2003)
Ann Neurol
, vol.4
, pp. 539-542
-
-
Vissing, J.1
Haller, R.G.2
-
102
-
-
0032815976
-
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene
-
Vissing J., Schmalbruch H., Haller R.G., et al. Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene. Ann Neurol 46 (1999) 274-277
-
(1999)
Ann Neurol
, vol.46
, pp. 274-277
-
-
Vissing, J.1
Schmalbruch, H.2
Haller, R.G.3
-
103
-
-
0037169553
-
A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen
-
Wang J., Stuckey J.A., Wishart M.J., et al. A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. J Biol Chem 277 (2002) 2377-2380
-
(2002)
J Biol Chem
, vol.277
, pp. 2377-2380
-
-
Wang, J.1
Stuckey, J.A.2
Wishart, M.J.3
-
104
-
-
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 P.R., Engel A.G., et al. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet 3 (1994) 1983-1987
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1983-1987
-
-
Wehner, M.1
Clemens, P.R.2
Engel, A.G.3
-
105
-
-
12144287218
-
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up
-
Winkel L.P.F., Van den Hout J., Kamphoven J.H.J., et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 55 (2004) 495-502
-
(2004)
Ann Neurol
, vol.55
, pp. 495-502
-
-
Winkel, L.P.F.1
Van den Hout, J.2
Kamphoven, J.H.J.3
|