-
1
-
-
0000171986
-
Glycogen storage diseases
-
(Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., eds), McGraw-Hill
-
Chen, Y-T. and Burchell, A. (1995) Glycogen storage diseases. In The Metabolic and Molecular Bases of Inherited Disease (7th edn) (Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., eds), pp 935-965, McGraw-Hill.
-
(1995)
In the Metabolic and Molecular Bases of Inherited Disease (7th Edn)
, pp. 935-965
-
-
Chen, Y.-T.1
Burchell, A.2
-
2
-
-
0025325109
-
Pathophysiology and dietary treatment of the glycogen storage diseases
-
Moses S.W. Pathophysiology and dietary treatment of the glycogen storage diseases. J. Pediatr. Gastroenterol. Nutr. 11:1990;155-174.
-
(1990)
J. Pediatr. Gastroenterol. Nutr.
, vol.11
, pp. 155-174
-
-
Moses, S.W.1
-
3
-
-
0000102915
-
Multifunctional glucose-6-phosphatase: A critical review
-
A.N. Martonosi. Plenum Press
-
Nordlie R.C., Sukalski K.A. Multifunctional glucose-6-phosphatase: a critical review. Martonosi A.N. The Enzymes of Biological Membranes. 1985;349-398 Plenum Press.
-
(1985)
The Enzymes of Biological Membranes
, pp. 349-398
-
-
Nordlie, R.C.1
Sukalski, K.A.2
-
4
-
-
0000884121
-
Glucose-6-phosphatase of the liver in glycogen storage disease
-
Cori G.T., Cori C.F. Glucose-6-phosphatase of the liver in glycogen storage disease. J. Biol. Chem. 199:1952;661-667.
-
(1952)
J. Biol. Chem.
, vol.199
, pp. 661-667
-
-
Cori, G.T.1
Cori, C.F.2
-
5
-
-
0014436823
-
Studies of liver glycogenoses, with particular reference to the metabolism of intravenously administered glycerol
-
Senior B., Loridan L. Studies of liver glycogenoses, with particular reference to the metabolism of intravenously administered glycerol. New Engl. J. Med. 279:1968;958-965.
-
(1968)
New Engl. J. Med.
, vol.279
, pp. 958-965
-
-
Senior, B.1
Loridan, L.2
-
6
-
-
0032513057
-
Transmembrane topology of glucose-6-phosphatase
-
Pan C-J., Lei K-J., Annabi B., Hemrika W., Chou J.Y. Transmembrane topology of glucose-6-phosphatase. J. Biol. Chem. 273:1998;6144-6148.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 6144-6148
-
-
Pan, C.-J.1
Lei, K.-J.2
Annabi, B.3
Hemrika, W.4
Chou, J.Y.5
-
7
-
-
0017149031
-
Microsomal membrane permeability and the hepatic glucose-6-phosphatase system
-
Arion W.J., Ballas L.M., Lange A.J., Wallin B.K. Microsomal membrane permeability and the hepatic glucose-6-phosphatase system. J. Biol. Chem. 251:1976;4901-4907.
-
(1976)
J. Biol. Chem.
, vol.251
, pp. 4901-4907
-
-
Arion, W.J.1
Ballas, L.M.2
Lange, A.J.3
Wallin, B.K.4
-
8
-
-
0019122446
-
Evidence of the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system
-
Arion W.J., Lange A.J., Walls H.E., Ballas L.M. Evidence of the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system. J. Biol. Chem. 255:1980;10396-10406.
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 10396-10406
-
-
Arion, W.J.1
Lange, A.J.2
Walls, H.E.3
Ballas, L.M.4
-
9
-
-
0018198963
-
A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system
-
Narisawa K., Igarashi Y., Otomo H., Tada K. A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. Biochem. Biophys. Res. Commun. 83:1978;1360-1364.
-
(1978)
Biochem. Biophys. Res. Commun.
, vol.83
, pp. 1360-1364
-
-
Narisawa, K.1
Igarashi, Y.2
Otomo, H.3
Tada, K.4
-
10
-
-
0019159690
-
Type 1b glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system
-
Lange A.J., Arion W.J., Beaudet A.L. Type 1b glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system. J. Biol. Chem. 255:1980;8381-8384.
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 8381-8384
-
-
Lange, A.J.1
Arion, W.J.2
Beaudet, A.L.3
-
11
-
-
0020555678
-
Type 1c, a novel glycogenosis
-
Nordlie R.C., Sukalski K.A., Munoz J.M., Baldwin J.J. Type 1c, a novel glycogenosis. J. Biol. Chem. 258:1983;9739-9744.
-
(1983)
J. Biol. Chem.
, vol.258
, pp. 9739-9744
-
-
Nordlie, R.C.1
Sukalski, K.A.2
Munoz, J.M.3
Baldwin, J.J.4
-
12
-
-
0032079451
-
A re-evaluation of GLUT 7
-
Burchell A. A re-evaluation of GLUT 7. Biochem. J. 331:1998;973.
-
(1998)
Biochem. J.
, vol.331
, pp. 973
-
-
Burchell, A.1
-
13
-
-
0028799765
-
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease type 1a and 1aSP but not 1b and 1c
-
Lei K-J.et al. Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease type 1a and 1aSP but not 1b and 1c. J. Clin. Invest. 95:1995;234-240.
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 234-240
-
-
Lei, K.-J.1
-
14
-
-
0022911120
-
Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate: Phosphohydrolase during detergent-dependent membrane modification
-
Schulze H.U., Nolte B., Kannler R. Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate: phosphohydrolase during detergent-dependent membrane modification. J. Biol. Chem. 261:1986;16571-16578.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 16571-16578
-
-
Schulze, H.U.1
Nolte, B.2
Kannler, R.3
-
15
-
-
0024486946
-
Glucose-6-phosphatase: Two concepts of membrane-function relationship
-
Sukalski K.A., Nordlie R.C. Glucose-6-phosphatase: two concepts of membrane-function relationship. Adv. Enzymol. Relat. Areas Mol. Biol. 62:1989;93-117.
-
(1989)
Adv. Enzymol. Relat. Areas Mol. Biol.
, vol.62
, pp. 93-117
-
-
Sukalski, K.A.1
Nordlie, R.C.2
-
16
-
-
0027442493
-
Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
-
Shelly L.L.et al. Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J. Biol. Chem. 268:1993;21482-21485.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 21482-21485
-
-
Shelly, L.L.1
-
17
-
-
0027381941
-
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
-
Lei K-J., Shelly L.L., Pan C-J., Sidbury J.B., Chou J.Y. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science. 262:1993;580-583.
-
(1993)
Science
, vol.262
, pp. 580-583
-
-
Lei, K.-J.1
Shelly, L.L.2
Pan, C.-J.3
Sidbury, J.B.4
Chou, J.Y.5
-
18
-
-
0028287877
-
Isolation of a cDNA for the catalytic subunit of rat liver glucose-6-phosphatase: Regulation of gene expression in FAO hepatoma cells by insulin, dexamethasone and cAMP
-
Lange A.J., Argaud D., el-Maghrabi M.R., Pan W., Maitra S.R., Pilkis S.J. Isolation of a cDNA for the catalytic subunit of rat liver glucose-6-phosphatase: regulation of gene expression in FAO hepatoma cells by insulin, dexamethasone and cAMP. Biochem. Biophys. Res. Commun. 201:1994;302-309.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.201
, pp. 302-309
-
-
Lange, A.J.1
Argaud, D.2
El-Maghrabi, M.R.3
Pan, W.4
Maitra, S.R.5
Pilkis, S.J.6
-
19
-
-
0031214695
-
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: Identification of mutation in puppies with glycogen storage disease type 1a
-
Kishnani P.S., Bao Y., Wu J-Y., Brix A.E., Lin J-L., Chen Y-T. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type 1a. Biochem. Mol. Med. 61:1997;168-177.
-
(1997)
Biochem. Mol. Med.
, vol.61
, pp. 168-177
-
-
Kishnani, P.S.1
Bao, Y.2
Wu, J.-Y.3
Brix, A.E.4
Lin, J.-L.5
Chen, Y.-T.6
-
20
-
-
0028324633
-
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
-
Lei K-J., Pan C-J., Shelly L.L., Liu J-L., Chou J.Y. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J. Clin. Invest. 93:1994;1994-1999.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1994-1999
-
-
Lei, K.-J.1
Pan, C.-J.2
Shelly, L.L.3
Liu, J.-L.4
Chou, J.Y.5
-
21
-
-
0032555515
-
Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase
-
Pan C-J., Lei K-J., Chou J.Y. Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. J. Biol. Chem. 273:1998;21658-21662.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 21658-21662
-
-
Pan, C.-J.1
Lei, K.-J.2
Chou, J.Y.3
-
22
-
-
0029034718
-
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
-
Lei K-J., Pan C-J., Liu J-L., Shelly L.L., Chou J.Y. Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J. Biol. Chem. 270:1995;11882-11886.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 11882-11886
-
-
Lei, K.-J.1
Pan, C.-J.2
Liu, J.-L.3
Shelly, L.L.4
Chou, J.Y.5
-
23
-
-
0029121574
-
Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus
-
Lei K-J.et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am. J. Hum. Genet. 57:1995;766-771.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 766-771
-
-
Lei, K.-J.1
-
24
-
-
0029929476
-
Mutation analysis in 24 French patients with glycogen storage disease type 1a
-
Chevalier-Porst F.et al. Mutation analysis in 24 French patients with glycogen storage disease type 1a. J. Med. Genet. 33:1996;358-360.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 358-360
-
-
Chevalier-Porst, F.1
-
25
-
-
0030828883
-
Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies
-
Parvari R.et al. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am. J. Med. Genet. 72:1997;286-290.
-
(1997)
Am. J. Med. Genet.
, vol.72
, pp. 286-290
-
-
Parvari, R.1
-
26
-
-
0028957250
-
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab
-
Parvari R., Moses S., Hershkovitz E., Carmi R., Bashan N. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J. Inherit. Metab. Dis. 18:1995;21-27.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 21-27
-
-
Parvari, R.1
Moses, S.2
Hershkovitz, E.3
Carmi, R.4
Bashan, N.5
-
27
-
-
0029042475
-
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type 1a
-
Hwu W-L., Chuang S-C., Tsai L-P., Chang M-H., Chuang S-M., Wang T-R. Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type 1a. Hum. Mol. Genet. 4:1995;1095-1096.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1095-1096
-
-
Hwu, W.-L.1
Chuang, S.-C.2
Tsai, L.-P.3
Chang, M.-H.4
Chuang, S.-M.5
Wang, T.-R.6
-
28
-
-
0031953729
-
Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a
-
Lam C-W.et al. Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. Clin. Genet. 53:1998;184-190.
-
(1998)
Clin. Genet.
, vol.53
, pp. 184-190
-
-
Lam, C.-W.1
-
29
-
-
0030661736
-
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients
-
Parvari R., Lei K-J., Szonyi L., Narkis G., Moses S., Chou J.Y. Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. Eur. J. Hum. Genet. 5:1997;191-195.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 191-195
-
-
Parvari, R.1
Lei, K.-J.2
Szonyi, L.3
Narkis, G.4
Moses, S.5
Chou, J.Y.6
-
30
-
-
0029135422
-
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
-
Kajihara S.et al. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am. J. Hum. Genet. 57:1995;549-555.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 549-555
-
-
Kajihara, S.1
-
31
-
-
0030934236
-
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers
-
Okubo M.et al. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. Clin. Genet. 51:1997;179-183.
-
(1997)
Clin. Genet.
, vol.51
, pp. 179-183
-
-
Okubo, M.1
-
32
-
-
0031940021
-
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a
-
Keller K.M., Schutz M., Podskarbi T., Bindl L., Lentze M.J., Shin Y.S. A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J. Pediatr. 132:1998;360-361.
-
(1998)
J. Pediatr.
, vol.132
, pp. 360-361
-
-
Keller, K.M.1
Schutz, M.2
Podskarbi, T.3
Bindl, L.4
Lentze, M.J.5
Shin, Y.S.6
-
33
-
-
0030474819
-
Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family
-
Lee W.J., Lee H.M., Chi C.S., Shu S.G., Lin L.Y., Lin W.H. Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. Clin. Genet. 50:1996;206-211.
-
(1996)
Clin. Genet.
, vol.50
, pp. 206-211
-
-
Lee, W.J.1
Lee, H.M.2
Chi, C.S.3
Shu, S.G.4
Lin, L.Y.5
Lin, W.H.6
-
34
-
-
0030063963
-
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type 1a mouse
-
Lei K-J.et al. Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type 1a mouse. Nat. Genet. 13:1996;203-209.
-
(1996)
Nat. Genet.
, vol.13
, pp. 203-209
-
-
Lei, K.-J.1
-
35
-
-
0030613787
-
The role of HNF1α, HNF3γ and cyclic AMP in glucose-6-phosphatase gene activation
-
Lin B., Morris D.W., Chou J.Y. The role of HNF1α, HNF3γ and cyclic AMP in glucose-6-phosphatase gene activation. Biochemistry. 46:1997;14096-14106.
-
(1997)
Biochemistry
, vol.46
, pp. 14096-14106
-
-
Lin, B.1
Morris, D.W.2
Chou, J.Y.3
-
36
-
-
0030031453
-
Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome
-
Pontoglio M.et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. 84:1996;575-585.
-
(1996)
Cell
, vol.84
, pp. 575-585
-
-
Pontoglio, M.1
-
37
-
-
0028124919
-
Effect of acute diabetes on rat hepatic glucose-6-phosphatase activity and its messenger RNA level
-
Liu Z., Barrett E.J., Dalkin A.C., Zwart A.D., Chou J.Y. Effect of acute diabetes on rat hepatic glucose-6-phosphatase activity and its messenger RNA level. Biochem. Biophys. Res. Commun. 205:1994;680-686.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.205
, pp. 680-686
-
-
Liu, Z.1
Barrett, E.J.2
Dalkin, A.C.3
Zwart, A.D.4
Chou, J.Y.5
-
38
-
-
0030991979
-
A multicomponent insulin response sequence mediates a strong repression of mouse glucose-6-phosphatase gene transcription by insulin
-
Streeper R.S., Svitek C.A., Chapman S., Greenbaum L.E., Taub R., O'Brien R.M. A multicomponent insulin response sequence mediates a strong repression of mouse glucose-6-phosphatase gene transcription by insulin. J. Biol. Chem. 272:1997;11698-11701.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 11698-11701
-
-
Streeper, R.S.1
Svitek, C.A.2
Chapman, S.3
Greenbaum, L.E.4
Taub, R.5
O'Brien, R.M.6
-
39
-
-
0029939780
-
Glucose regulates in vivo glucose-6-phosphatase gene expression in the liver of diabetic rats
-
Massillon D., Barzilai N., Chen W., Hu M., Rossetti L. Glucose regulates in vivo glucose-6-phosphatase gene expression in the liver of diabetic rats. J. Biol. Chem. 271:1996;9871-9874.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 9871-9874
-
-
Massillon, D.1
Barzilai, N.2
Chen, W.3
Hu, M.4
Rossetti, L.5
-
40
-
-
0030925598
-
Stimulation of glucose-6-phosphatase gene expression by glucose and fructose-2,6-bisphosphate
-
Argaud D., Kirby T.L., Newgard C.B., Lange A.J. Stimulation of glucose-6-phosphatase gene expression by glucose and fructose-2,6-bisphosphate. J. Biol. Chem. 272:1997;12854-12861.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 12854-12861
-
-
Argaud, D.1
Kirby, T.L.2
Newgard, C.B.3
Lange, A.J.4
-
41
-
-
0030067124
-
A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm
-
Matschinsky F.M. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm. Diabetes. 45:1996;223-241.
-
(1996)
Diabetes
, vol.45
, pp. 223-241
-
-
Matschinsky, F.M.1
-
42
-
-
10544249874
-
Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
-
Yamagata K.et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature. 384:1996;455-458.
-
(1996)
Nature
, vol.384
, pp. 455-458
-
-
Yamagata, K.1
-
43
-
-
0030856736
-
Metabolic impact of adenovirus-mediated overexpression of the glucose-6-phosphatase catalytic subunit in hepatocytes
-
Seoane J.et al. Metabolic impact of adenovirus-mediated overexpression of the glucose-6-phosphatase catalytic subunit in hepatocytes. J. Biol. Chem. 272:1997;26972-26977.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 26972-26977
-
-
Seoane, J.1
-
44
-
-
0019195556
-
Neutropenia and impaired neutrophil migration in type 1B glycogen storage disease
-
Beaudet A.L., Anderson D.C., Michels V.V., Arion W.J., Lange A.J. Neutropenia and impaired neutrophil migration in type 1B glycogen storage disease. J. Pediatr. 97:1980;906-910.
-
(1980)
J. Pediatr.
, vol.97
, pp. 906-910
-
-
Beaudet, A.L.1
Anderson, D.C.2
Michels, V.V.3
Arion, W.J.4
Lange, A.J.5
-
45
-
-
0026729095
-
Brief report: Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors
-
Roe T.F., Coates T.D., Thomas D.W., Miller J.H., Gilsanz V. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. New Engl. J. Med. 326:1992;1666-1669.
-
(1992)
New Engl. J. Med.
, vol.326
, pp. 1666-1669
-
-
Roe, T.F.1
Coates, T.D.2
Thomas, D.W.3
Miller, J.H.4
Gilsanz, V.5
-
46
-
-
17344372507
-
The gene for glycogen storage disease type 1b maps to chromosome 11q23
-
Annabi B.et al. The gene for glycogen storage disease type 1b maps to chromosome 11q23. Am. J. Hum. Genet. 62:1998;400-405.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 400-405
-
-
Annabi, B.1
-
47
-
-
0031448837
-
Sequence of a putative glucose-6-phosphate translocase, mutated in glycogen storage disease type 1b
-
Gerin I., Veiga-da-Cunha M., Achouri Y., Collet J-F., Van Schaftingen E. Sequence of a putative glucose-6-phosphate translocase, mutated in glycogen storage disease type 1b. FEBS Lett. 419:1997;235-238.
-
(1997)
FEBS Lett.
, vol.419
, pp. 235-238
-
-
Gerin, I.1
Veiga-Da-Cunha, M.2
Achouri, Y.3
Collet, J.-F.4
Van Schaftingen, E.5
-
48
-
-
0031979306
-
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q
-
Fenske C.D., Jeffery S., Weber J.L., Houlston R.S., Leonard J.V., Lee P.J. Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. J. Med. Genet. 35:1998;269-272.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 269-272
-
-
Fenske, C.D.1
Jeffery, S.2
Weber, J.L.3
Houlston, R.S.4
Leonard, J.V.5
Lee, P.J.6
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