-
3
-
-
0025321163
-
The primary structure of rat liver glycogen synthase deduced by cDNA cloning
-
Bai G, Zhang ZJ, Werner R et al (1990) The primary structure of rat liver glycogen synthase deduced by cDNA cloning. Journal of Biological Chemistry 265: 7843-7848.
-
(1990)
Journal of Biological Chemistry
, vol.265
, pp. 7843-7848
-
-
Bai, G.1
Zhang, Z.J.2
Werner, R.3
-
4
-
-
0024390176
-
Hyperfiltration and renal disease in glycogen storage disease, type I
-
Baker L, Dahlem S, Goldfarb S et al (1989) Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney International 35: 1345-1350.
-
(1989)
Kidney International
, vol.35
, pp. 1345-1350
-
-
Baker, L.1
Dahlem, S.2
Goldfarb, S.3
-
5
-
-
0038845974
-
Demonstration of a metabolically active glucose-6-phosphate pool in the lumen of liver microsomal vesicles
-
Banhegyi G, Marcolongo P, Fulceri R et al (1997) Demonstration of a metabolically active glucose-6-phosphate pool in the lumen of liver microsomal vesicles Journal of Biological Chemistry 272: 13584-13590.
-
(1997)
Journal of Biological Chemistry
, vol.272
, pp. 13584-13590
-
-
Banhegyi, G.1
Marcolongo, P.2
Fulceri, R.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, Wu JY & Chen YT (1996) Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme Journal of Clinical Investigation 97: 941-948.
-
(1996)
Journal of Clinical Investigation
, vol.97
, pp. 941-948
-
-
Bao, Y.1
Kishnani, P.2
Wu, J.Y.3
Chen, Y.T.4
-
7
-
-
0019453497
-
Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia
-
Bartram CR, Przyrembel H, Wendel U et al (1981) Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia. European Journal of Pediatrics 137: 81-84.
-
(1981)
European Journal of Pediatrics
, vol.137
, pp. 81-84
-
-
Bartram, C.R.1
Przyrembel, H.2
Wendel, U.3
-
8
-
-
0016763295
-
Debranching enzyme from rabbit skeletal muscle: Evidence for the location of the two active centres on a single polypeptide chain
-
Bates EJ, Heaton GM, Taylor C et al (1975) Debranching enzyme from rabbit skeletal muscle: evidence for the location of the two active centres on a single polypeptide chain. FEBS Letters 58: 181-185.
-
(1975)
FEBS Letters
, vol.58
, pp. 181-185
-
-
Bates, E.J.1
Heaton, G.M.2
Taylor, C.3
-
11
-
-
0013934669
-
Lack of an a 1,4-glucan: A 1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis
-
Brown BI & Brown DH (1966) Lack of an a 1,4-glucan: a 1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proceedings of the National Academy of Sciences of the USA 56: 725-729.
-
(1966)
Proceedings of the National Academy of Sciences of the USA
, vol.56
, pp. 725-729
-
-
Brown, B.I.1
Brown, D.H.2
-
12
-
-
0015918141
-
Studies on the structure and mechanism of action of the glycogen debranching enzymes of muscle and liver
-
Brown DH, Gordon RB & Brown BI (1973) Studies on the structure and mechanism of action of the glycogen debranching enzymes of muscle and liver. Annals of the New York Academy of Science 210: 238-253.
-
(1973)
Annals of the New York Academy of Science
, vol.210
, pp. 238-253
-
-
Brown, D.H.1
Gordon, R.B.2
Brown, B.I.3
-
14
-
-
0026876175
-
The molecular basis of the type 1 glycogen storage diseases
-
Burchell A (1992) The molecular basis of the type 1 glycogen storage diseases. Bioessays 14: 395-400.
-
(1992)
Bioessays
, vol.14
, pp. 395-400
-
-
Burchell, A.1
-
15
-
-
0031464397
-
The molecular biology of glycogen storage diseases affecting the liver
-
Bayer JN & Ockner RK (eds) Philadelphia: WB Saunders Co.
-
Burchell A (1997) The molecular biology of glycogen storage diseases affecting the liver. In Bayer JN & Ockner RK (eds) Progress in Liver Diseases, pp 125-145. Philadelphia: WB Saunders Co.
-
(1997)
Progress in Liver Diseases
, pp. 125-145
-
-
Burchell, A.1
-
16
-
-
0028845430
-
The glucose-6-phosphatase system in human development
-
Burchell A & Hume R (1995) The glucose-6-phosphatase system in human development. Histology and Histopathology 10: 979-993.
-
(1995)
Histology and Histopathology
, vol.10
, pp. 979-993
-
-
Burchell, A.1
Hume, R.2
-
17
-
-
0023890340
-
A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system
-
Burchell A, Hume R & Burchell B (1988) A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system. Clinica Chimica Acta 173: 183-192.
-
(1988)
Clinica Chimica Acta
, vol.173
, pp. 183-192
-
-
Burchell, A.1
Hume, R.2
Burchell, B.3
-
18
-
-
0023215638
-
Diagnosis of type Ia and type Ic glycogen storage diseases in adults
-
Burchell A, Jung RT, Lang CC et al (1987) Diagnosis of type Ia and type Ic glycogen storage diseases in adults. Lancet i: 1059-1062.
-
(1987)
Lancet
, vol.1
, pp. 1059-1062
-
-
Burchell, A.1
Jung, R.T.2
Lang, C.C.3
-
19
-
-
0029940552
-
Mutation hot spots in the Phka2 Gene in X-linked liver glycogenosis due to phosphorylase-kinase deficiency with atypical activity in blood-cells (XLG2)
-
Burwinkel B, Shin YS, Baker HD et al (1996) Mutation hot spots in the Phka2 Gene in X-linked liver glycogenosis due to phosphorylase-kinase deficiency with atypical activity in blood-cells (XLG2). Human Molecular Genetics 5: 653-658.
-
(1996)
Human Molecular Genetics
, vol.5
, pp. 653-658
-
-
Burwinkel, B.1
Shin, Y.S.2
Baker, H.D.3
-
20
-
-
0023341244
-
Isolation of cDNA clones for the catalytic γ subunit of mouse phosphorylase kinase: Expression of mRNA in normal and mutant PHK mice
-
Chamberlain JS, van Tuinen P, Reeves AA et al (1987) Isolation of cDNA clones for the catalytic γ subunit of mouse phosphorylase kinase: expression of mRNA in normal and mutant PHK mice. Proceedings of the National Academy of Sciences of the USA 84: 2886-2890.
-
(1987)
Proceedings of the National Academy of Sciences of the USA
, vol.84
, pp. 2886-2890
-
-
Chamberlain, J.S.1
Van Tuinen, P.2
Reeves, A.A.3
-
21
-
-
0025975050
-
Type I glycogen storage disease, kidney involvement, pathogenesis and its treatment
-
Chen Y-T (1991) Type I glycogen storage disease, kidney involvement, pathogenesis and its treatment. Pediatric Nephrology 5: 71-76.
-
(1991)
Pediatric Nephrology
, vol.5
, pp. 71-76
-
-
Chen, Y.-T.1
-
22
-
-
0000171986
-
Glycogen storage diseases
-
Scriver CR, Beaudet AL, Sly WS & Valle D (eds) New York: McGraw-Hill
-
*Chen Y-T & Burchell A (1995) Glycogen storage diseases. In Scriver CR, Beaudet AL, Sly WS & Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 7th edn, pp 935-965. New York: McGraw-Hill.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn
, pp. 935-965
-
-
Chen, Y.-T.1
Burchell, A.2
-
23
-
-
0023572187
-
Glycogen debranching enzyme: Purification, antibody characterisation and immunoblot analyses of type III glycogen storage disease
-
Chen Y-T, He J-K & Ding J-H (1987) Glycogen debranching enzyme: purification, antibody characterisation and immunoblot analyses of type III glycogen storage disease. American Journal of Human Genetics 41: 1002-1015.
-
(1987)
American Journal of Human Genetics
, vol.41
, pp. 1002-1015
-
-
Chen, Y.-T.1
He, J.-K.2
Ding, J.-H.3
-
25
-
-
0025004559
-
Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy
-
Chen Y-T, Scheinman JI, Park HK et al (1990) Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. New England Journal of Medicine 323: 590-593.
-
(1990)
New England Journal of Medicine
, vol.323
, pp. 590-593
-
-
Chen, Y.-T.1
Scheinman, J.I.2
Park, H.K.3
-
26
-
-
0029929476
-
Mutation analysis in 24 French patients with glycogen storage disease type Ia
-
Chevalier-Porst F, Bozon D, Bonardot A-M et al (1996) Mutation analysis in 24 French patients with glycogen storage disease type Ia. Journal of Medical Genetics 33: 358-360.
-
(1996)
Journal of Medical Genetics
, vol.33
, pp. 358-360
-
-
Chevalier-Porst, F.1
Bozon, D.2
Bonardot, A.-M.3
-
27
-
-
0015912123
-
The subunit structure of rabbit-skeletal-muscle phosphorylase kinase, and the molecular basis of its activation reactions
-
Cohen P (1973) The subunit structure of rabbit-skeletal-muscle phosphorylase kinase, and the molecular basis of its activation reactions. European Journal of Biochemistry 34: 1-14.
-
(1973)
European Journal of Biochemistry
, vol.34
, pp. 1-14
-
-
Cohen, P.1
-
28
-
-
0026555644
-
cDNA cloning of liver isoform of the phosphorylase kinase a subunit and mapping of the gene to Xp22.2-p22.2, the region of human X-linked liver glycogenesis
-
Davidson JJ, Ozcelik T, Hamachar C et al (1992) cDNA cloning of liver isoform of the phosphorylase kinase a subunit and mapping of the gene to Xp22.2-p22.2, the region of human X-linked liver glycogenesis. Proceedings of the National Academy of Sciences of the USA 89: 2096-2100.
-
(1992)
Proceedings of the National Academy of Sciences of the USA
, vol.89
, pp. 2096-2100
-
-
Davidson, J.J.1
Ozcelik, T.2
Hamachar, C.3
-
29
-
-
0028903925
-
Hypoglycaemia complicating treatment regimes for glycogen storage disease
-
Dunger DB & Sutton P (1995) Hypoglycaemia complicating treatment regimes for glycogen storage disease. Archives of Disease in Childhood 72: 274-278.
-
(1995)
Archives of Disease in Childhood
, vol.72
, pp. 274-278
-
-
Dunger, D.B.1
Sutton, P.2
-
30
-
-
0018274194
-
Renal transplantation in type I glycogenesis: Failure to improve glucose metabolism
-
Emmett M & Narins RG (1978) Renal transplantation in type I glycogenesis: failure to improve glucose metabolism. JAMA 239: 1642-1644.
-
(1978)
JAMA
, vol.239
, pp. 1642-1644
-
-
Emmett, M.1
Narins, R.G.2
-
31
-
-
0015963110
-
Hepatic phosphorylase deficiency: Its differentiation from other hepatic glycogenoses
-
Fernandes J, Koster JF & Grose WFA (1974) Hepatic phosphorylase deficiency: its differentiation from other hepatic glycogenoses. Archives of Disease in Childhood 49: 186-191.
-
(1974)
Archives of Disease in Childhood
, vol.49
, pp. 186-191
-
-
Fernandes, J.1
Koster, J.F.2
Grose, W.F.A.3
-
33
-
-
0021971629
-
Hemorrhage into a hepatic adenoma and type Ia glycogen storage disease
-
Fink AS, Appelman HD & Thomson NW (1985) Hemorrhage into a hepatic adenoma and type Ia glycogen storage disease. Surgery 97: 117-124.
-
(1985)
Surgery
, vol.97
, pp. 117-124
-
-
Fink, A.S.1
Appelman, H.D.2
Thomson, N.W.3
-
37
-
-
0031056445
-
Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma
-
Haagsma EB, Smit GPA, Niezen-Koning KE et al (1997) Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. Hepatology 25: 537-540.
-
(1997)
Hepatology
, vol.25
, pp. 537-540
-
-
Haagsma, E.B.1
Smit, G.P.A.2
Niezen-Koning, K.E.3
-
38
-
-
0026045922
-
Isoform diversity of phosphorylase kinase a and b subunits generated by alternative RNA splicing
-
Harmann B, Zander NF & Kilimann MW (1991) Isoform diversity of phosphorylase kinase a and b subunits generated by alternative RNA splicing. Journal of Biological Chemistry 266: 15 631-15 637.
-
(1991)
Journal of Biological Chemistry
, vol.266
, pp. 15631-15637
-
-
Harmann, B.1
Zander, N.F.2
Kilimann, M.W.3
-
39
-
-
0028891019
-
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
-
Hendrickx J, Coucke P, Dams E et al (1995) Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Human Molecular Genetics 4: 77-83.
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 77-83
-
-
Hendrickx, J.1
Coucke, P.2
Dams, E.3
-
40
-
-
0029947170
-
X-linked liver glycogenosis type-ii (XLG-II) is caused by mutations in phka2, the gene encoding the liver a subunit of phosphorylase-kinase
-
Hendrickx J, Dams E, Coucke P et al (1996) X-linked liver glycogenosis type-ii (XLG-II) is caused by mutations in phka2, the gene encoding the liver a subunit of phosphorylase-kinase. Human Molecular Genetics 5: 649-652.
-
(1996)
Human Molecular Genetics
, vol.5
, pp. 649-652
-
-
Hendrickx, J.1
Dams, E.2
Coucke, P.3
-
41
-
-
0015042014
-
Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection
-
Howell RR, Kaback MM, Brown BI (1971) Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. Journal of Pediatrics 78: 638-642.
-
(1971)
Journal of Pediatrics
, vol.78
, pp. 638-642
-
-
Howell, R.R.1
Kaback, M.M.2
Brown, B.I.3
-
42
-
-
0017316843
-
Hepatic adenomata with type I glycogen storage disease
-
Howell RR, Stevenson RE, Ben-Menachem Y et al (1976) Hepatic adenomata with type I glycogen storage disease. JAMA 236: 1481-1484.
-
(1976)
JAMA
, vol.236
, pp. 1481-1484
-
-
Howell, R.R.1
Stevenson, R.E.2
Ben-Menachem, Y.3
-
43
-
-
0022351732
-
Comparative sequence analysis of rat, rabbit and human muscle glycogen phosphorylase cDNAs
-
Hwang PK, See YP, Vincentini AM et al (1985) Comparative sequence analysis of rat, rabbit and human muscle glycogen phosphorylase cDNAs. European Journal of Biochemistry 152: 267-274.
-
(1985)
European Journal of Biochemistry
, vol.152
, pp. 267-274
-
-
Hwang, P.K.1
See, Y.P.2
Vincentini, A.M.3
-
44
-
-
0024210414
-
The a and b subunits of phosphorylase kinase are homologous: CDNA cloning and primary structure of the b subunit
-
Kilimann MW, Zander NF, Kuhn CC et al (1988) The a and b subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the b subunit. Proceedings of the National Academy of Sciences of the USA 85: 9381-9385.
-
(1988)
Proceedings of the National Academy of Sciences of the USA
, vol.85
, pp. 9381-9385
-
-
Kilimann, M.W.1
Zander, N.F.2
Kuhn, C.C.3
-
45
-
-
0025908980
-
Growth in adulthood after liver transplantation for glycogen storage disease type I
-
Kirschner BS, Baker AL & Thorp FK (1991) Growth in adulthood after liver transplantation for glycogen storage disease type I. Gastroenterology 101: 238-242.
-
(1991)
Gastroenterology
, vol.101
, pp. 238-242
-
-
Kirschner, B.S.1
Baker, A.L.2
Thorp, F.K.3
-
46
-
-
0016789659
-
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type IV glycogen-storage disease
-
Lederer B, van Hoof F, Van Den Berghe G & Hers HG (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type IV glycogen-storage disease. Biochemical Journal 147: 23-35.
-
(1975)
Biochemical Journal
, vol.147
, pp. 23-35
-
-
Lederer, B.1
Van Hoof, F.2
Van Den Berghe, G.3
Hers, H.G.4
-
48
-
-
0029092727
-
The hepatic glycogen storage diseases - Problems beyond childhood
-
Lee PJ & Leonard JV (1995) The hepatic glycogen storage diseases - problems beyond childhood. Journal of Inherited Metabolic Disorders 18: 462-472.
-
(1995)
Journal of Inherited Metabolic Disorders
, vol.18
, pp. 462-472
-
-
Lee, P.J.1
Leonard, J.V.2
-
49
-
-
0029121574
-
Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus
-
Lei K-J, Chen Y-T, Chen H et al (1995a) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. American Journal of Human Genetics 57: 766-771.
-
(1995)
American Journal of Human Genetics
, vol.57
, pp. 766-771
-
-
Lei, K.-J.1
Chen, Y.-T.2
Chen, H.3
-
50
-
-
0028799765
-
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c
-
Lei K-J, Shelly LL, Liu B et al (1995b) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. Journal of Clinical Investigation 95: 234-240.
-
(1995)
Journal of Clinical Investigation
, vol.95
, pp. 234-240
-
-
Lei, K.-J.1
Shelly, L.L.2
Liu, B.3
-
52
-
-
0023868754
-
Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding
-
Levy E, Thibault LA, Roy CC et al (1988) Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding. Journal of Lipid Research 29: 215-226.
-
(1988)
Journal of Lipid Research
, vol.29
, pp. 215-226
-
-
Levy, E.1
Thibault, L.A.2
Roy, C.C.3
-
53
-
-
0023711219
-
Hepatocellular carcinoma in type I glycogen storage disease
-
Limmer J, Fleig WE, Leupold D et al (1988) Hepatocellular carcinoma in type I glycogen storage disease. Hepatology 8: 531-537.
-
(1988)
Hepatology
, vol.8
, pp. 531-537
-
-
Limmer, J.1
Fleig, W.E.2
Leupold, D.3
-
54
-
-
0025283047
-
The biogenesis of glycogen: Nature of the carbohydrate in the protein primer
-
Lomako J, Lomako WM & Whelan WJ (1990) The biogenesis of glycogen: nature of the carbohydrate in the protein primer. Biochemistry International 21: 251-260.
-
(1990)
Biochemistry International
, vol.21
, pp. 251-260
-
-
Lomako, J.1
Lomako, W.M.2
Whelan, W.J.3
-
55
-
-
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 DA et al (1996) Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. Journal of Inherited Metabolic Disorders 19: 51-58.
-
(1996)
Journal of Inherited Metabolic Disorders
, vol.19
, pp. 51-58
-
-
McConkie Rosell, A.1
Wilson, C.2
Piccoli, D.A.3
-
56
-
-
0031738517
-
Liver microsomal transport of glucose-6-phosphate, glucose and phosphate in type 1 glycogen storage diseases
-
Marcolongo P, Bánhegyi G, Benedetti A et al (1998) Liver microsomal transport of glucose-6-phosphate, glucose and phosphate in type 1 glycogen storage diseases. Journal of Clinical Endocrinology and Metabolism 83: 224-229.
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, vol.83
, pp. 224-229
-
-
Marcolongo, P.1
Bánhegyi, G.2
Benedetti, A.3
-
57
-
-
0022530704
-
DDAVP infusion in five patients with type 1a glycogen storage disease and associated correction of prolonged bleeding times
-
Marti GE, Rick ME, Sidbury J & Gralnick HR (1986) DDAVP infusion in five patients with type 1a glycogen storage disease and associated correction of prolonged bleeding times. Blood 68: 180-184.
-
(1986)
Blood
, vol.68
, pp. 180-184
-
-
Marti, G.E.1
Rick, M.E.2
Sidbury, J.3
Gralnick, H.R.4
-
59
-
-
0023860930
-
Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes
-
Newgard CB, Littman DR, van Genderen C et al (1988) Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. Journal of Biological Chemistry 263: 3850-3857.
-
(1988)
Journal of Biological Chemistry
, vol.263
, pp. 3850-3857
-
-
Newgard, C.B.1
Littman, D.R.2
Van Genderen, C.3
-
60
-
-
0030590081
-
A novel donor splice-site mutation in the glycogen debranching enzyme gene is associated with glycogen-storage-disease type-III
-
Okubo M, Aoyama Y & Murase T (1996) A novel donor splice-site mutation in the glycogen debranching enzyme gene is associated with glycogen-storage-disease type-III. Biochemical and Biophysical Research Communications 224: 493-499.
-
(1996)
Biochemical and Biophysical Research Communications
, vol.224
, pp. 493-499
-
-
Okubo, M.1
Aoyama, Y.2
Murase, T.3
-
61
-
-
0022505764
-
Isolation of partial cDNA's for rat liver and muscle glycogen phosphorylase isozymes
-
Osawa S, Chiu RH, McDonough A et al (1986) Isolation of partial cDNA's for rat liver and muscle glycogen phosphorylase isozymes. FEBS Letters 202: 282-288.
-
(1986)
FEBS Letters
, vol.202
, pp. 282-288
-
-
Osawa, S.1
Chiu, R.H.2
McDonough, A.3
-
63
-
-
0022364577
-
A novel glycosyl-amino acid linkage: Rabbit muscle glycogen is covalently linked to a protein via tyrosine
-
Rodriguez IR & Whelan WJ (1985) A novel glycosyl-amino acid linkage: rabbit muscle glycogen is covalently linked to a protein via tyrosine. Biochemical and Biophysical Research Communications 132: 829-836.
-
(1985)
Biochemical and Biophysical Research Communications
, vol.132
, pp. 829-836
-
-
Rodriguez, I.R.1
Whelan, W.J.2
-
64
-
-
0026729095
-
Brief report: Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors
-
Roe TF, Coates TD, Thomas DW et al (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. New England Journal of Medicine 326: 1666-1669.
-
(1992)
New England Journal of Medicine
, vol.326
, pp. 1666-1669
-
-
Roe, T.F.1
Coates, T.D.2
Thomas, D.W.3
-
65
-
-
0015865137
-
Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency
-
Schimke RN, Zakkheim RM, Cowder RC et al (1973) Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. Journal of Pediatrics 83: 1031-1034.
-
(1973)
Journal of Pediatrics
, vol.83
, pp. 1031-1034
-
-
Schimke, R.N.1
Zakkheim, R.M.2
Cowder, R.C.3
-
67
-
-
0030054818
-
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is deferentially expressed in liver and muscle
-
Shen J, Bao Y, Liu HM et al (1996) Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is deferentially expressed in liver and muscle. Journal of Clinical Investigation 98: 352-357.
-
(1996)
Journal of Clinical Investigation
, vol.98
, pp. 352-357
-
-
Shen, J.1
Bao, Y.2
Liu, H.M.3
-
68
-
-
0031012232
-
A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
-
Shen J, Bao Y & Chen Y-T (1997a) A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. Human Mutation 9: 37-40.
-
(1997)
Human Mutation
, vol.9
, pp. 37-40
-
-
Shen, J.1
Bao, Y.2
Chen, Y.-T.3
-
69
-
-
0031038339
-
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III
-
Shen J, Liu H-M, Bao Y & Chen YT (1997b) Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. Journal of Medical Genetics 34: 34-48.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 34-48
-
-
Shen, J.1
Liu, H.-M.2
Bao, Y.3
Chen, Y.T.4
-
71
-
-
0026560136
-
Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis
-
Sokal EM, Van Hoof F, Alberti D et al (1992) Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. European Journal of Pediatrics 151: 200-203.
-
(1992)
European Journal of Pediatrics
, vol.151
, pp. 200-203
-
-
Sokal, E.M.1
Van Hoof, F.2
Alberti, D.3
-
72
-
-
0027531831
-
Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast
-
Thon VJ, Khalil M & Cannon JF (1993) Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. Journal of Biological Chemistry 268: 7509-7513.
-
(1993)
Journal of Biological Chemistry
, vol.268
, pp. 7509-7513
-
-
Thon, V.J.1
Khalil, M.2
Cannon, J.F.3
-
73
-
-
0022491832
-
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency
-
Tuchman M, Brown BI, Burcke BA & Ulstrom RA (1986) Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. Metabolism 35: 627-633.
-
(1986)
Metabolism
, vol.35
, pp. 627-633
-
-
Tuchman, M.1
Brown, B.I.2
Burcke, B.A.3
Ulstrom, R.A.4
-
74
-
-
0013895907
-
A study of the reaction catalyzed by the liver branching enzyme
-
Verhue W & Hers HG (1966) A study of the reaction catalyzed by the liver branching enzyme. Biochemical Journal 99: 222-227.
-
(1966)
Biochemical Journal
, vol.99
, pp. 222-227
-
-
Verhue, W.1
Hers, H.G.2
-
75
-
-
0025177250
-
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients
-
Willems PJ, Gerver WJM, Berger R & Fernandes J (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. European Journal of Pediatrics 149: 268-271.
-
(1990)
European Journal of Pediatrics
, vol.149
, pp. 268-271
-
-
Willems, P.J.1
Gerver, W.J.M.2
Berger, R.3
Fernandes, J.4
-
76
-
-
0025073779
-
Glucose therapy for glycogenosis type 1 in infants: Comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings
-
Wolfsdorf JI, Keller RJ, Landy H & Crigler JF (1990) Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. Journal of Pediatrics 117: 384-391.
-
(1990)
Journal of Pediatrics
, vol.117
, pp. 384-391
-
-
Wolfsdorf, J.I.1
Keller, R.J.2
Landy, H.3
Crigler, J.F.4
-
77
-
-
0029903166
-
Structure of the human gene encoding the phosphorylase-kinase beta-subunit (Phkb)
-
Wullrichschmoll A & Kilimann MW (1996) Structure of the human gene encoding the phosphorylase-kinase beta-subunit (Phkb). European Journal of Biochemistry 238: 374-380.
-
(1996)
European Journal of Biochemistry
, vol.238
, pp. 374-380
-
-
Wullrichschmoll, A.1
Kilimann, M.W.2
-
78
-
-
0026804629
-
Molecular cloning and nucleotide sequence of cDNA encoding human muscle debranching enzyme
-
Yang BZ, Ding JH, Enghild JJ et al (1992) Molecular cloning and nucleotide sequence of cDNA encoding human muscle debranching enzyme. Journal of Biological Chemistry 267: 9294-9299.
-
(1992)
Journal of Biological Chemistry
, vol.267
, pp. 9294-9299
-
-
Yang, B.Z.1
Ding, J.H.2
Enghild, J.J.3
|