-
1
-
-
0036086034
-
Type I glycogen storage diseases: Disorders of the glucose-6-phosphatase complex
-
Chou, J. Y., Matern, D., Mansfield, B. C. & Chen, Y. T. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr. Mol. Med. 2, 121-143 (2002).
-
(2002)
Curr. Mol. Med.
, vol.2
, pp. 121-143
-
-
Chou, J.Y.1
Matern, D.2
Mansfield, B.C.3
Chen, Y.T.4
-
2
-
-
32444436610
-
-
Ch. 13 eds Broer, S. & Wagner, C. A., Springer, New York
-
Chou, J. Y. & Mansfield, B. C. in Membrane Transporter Diseases, Ch. 13 (eds Broer, S. & Wagner, C. A.) 191-205 (Springer, New York, 2003).
-
(2003)
Membrane Transporter Diseases
, pp. 191-205
-
-
Chou, J.Y.1
Mansfield, B.C.2
-
3
-
-
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, 580-583 (1993).
-
(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
-
4
-
-
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, 1994-1999 (1994).
-
(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
-
5
-
-
0033605362
-
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
-
Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S. W. & Chou, J. Y. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J. Biol. Chem. 274, 5532-5536 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 5532-5536
-
-
Hiraiwa, H.1
Pan, C.-J.2
Lin, B.3
Moses, S.W.4
Chou, J.Y.5
-
6
-
-
0031448837
-
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
-
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 Ib. FEBS Lett 419, 235-238 (1997).
-
(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
-
7
-
-
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, 400-405 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 400-405
-
-
Annabi, B.1
-
8
-
-
0033580240
-
Structure of the gene mutated in glycogen storage disease type Ib
-
Gerin, I., Veiga-da-Cunha, M., Noël, G. & Van Schaftingen, E. Structure of the gene mutated in glycogen storage disease type Ib. Gene 227, 189-195 (1999).
-
(1999)
Gene
, vol.227
, pp. 189-195
-
-
Gerin, I.1
Veiga-Da-Cunha, M.2
Noël, G.3
Van Schaftingen, E.4
-
9
-
-
0032231666
-
A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogenstorage disease types Ib and Ic
-
Veiga-da-Cunha, M. et al. A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogenstorage disease types Ib and Ic. Am. J. Hum. Genet 63, 976-983 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 976-983
-
-
Veiga-Da-Cunha, M.1
-
10
-
-
0032831035
-
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
-
Veiga-da-Cunha, M. et al. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur. J. Hum. Genet. 7, 717-723 (1999).
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 717-723
-
-
Veiga-Da-Cunha, M.1
-
11
-
-
0032826812
-
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
-
Galli, L. et al. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett 459, 255-258 (1999).
-
(1999)
FEBS Lett.
, vol.459
, pp. 255-258
-
-
Galli, L.1
-
12
-
-
0033777083
-
Mutation analysis in glycogen storage disease type 1 non-a
-
Janecke, A. R. et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum. Genet 107, 285-289 (2000).
-
(2000)
Hum. Genet.
, vol.107
, pp. 285-289
-
-
Janecke, A.R.1
-
13
-
-
46749112999
-
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic
-
Chen, S. Y. et al. The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. FASEB J. 22, 2206-2213 (2008).
-
(2008)
FASEB J.
, vol.22
, pp. 2206-2213
-
-
Chen, S.Y.1
-
14
-
-
0032189498
-
Ontogeny of the murine glucose-6-phosphatase system
-
Pan, C.-J., Lei, K.-J., Chen, H., Ward, J. M. & Chou, J. Y. Ontogeny of the murine glucose-6-phosphatase system. Arch. Biochem. Biophys. 358, 17-24 (1998).
-
(1998)
Arch. Biochem. Biophys.
, vol.358
, pp. 17-24
-
-
Pan, C.-J.1
Lei, K.-J.2
Chen, H.3
Ward, J.M.4
Chou, J.Y.5
-
15
-
-
0033610792
-
Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
-
Lin, B., Annabi, B., Hiraiwa, H., Pan, C.-J. & Chou, J. Y. Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents. J. Biol. Chem. 273, 31656-31660 (1998).
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 31656-31660
-
-
Lin, B.1
Annabi, B.2
Hiraiwa, H.3
Pan, C.-J.4
Chou, J.Y.5
-
16
-
-
0345306587
-
A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia
-
Shieh, J.-J., Pan, C.-J., Mansfield, B. C. & Chou, J. Y. A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia. J. Biol. Chem. 278, 47098-47103 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 47098-47103
-
-
Shieh, J.-J.1
Pan, C.-J.2
Mansfield, B.C.3
Chou, J.Y.4
-
17
-
-
0142102538
-
Identification and characterisation of a new human glucose-6-phosphatase isoform
-
Guionie, O., Clottes, E., Stafford, K. & Burchell, A. Identification and characterisation of a new human glucose-6-phosphatase isoform. FEBS Lett 551, 159-164 (2003).
-
(2003)
FEBS Lett.
, vol.551
, pp. 159-164
-
-
Guionie, O.1
Clottes, E.2
Stafford, K.3
Burchell, A.4
-
18
-
-
1842582072
-
Histidine-167 is the phosphate acceptor in glucose-6-phosphatase-β forming a phosphohistidine-enzyme intermediate during catalysis
-
Ghosh, A., Shieh, J.-J., Pan, C.-J. & Chou, J. Y Histidine-167 is the phosphate acceptor in glucose-6-phosphatase-β forming a phosphohistidine-enzyme intermediate during catalysis. J. Biol. Chem. 279, 12479-12483 (2004).
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 12479-12483
-
-
Ghosh, A.1
Shieh, J.-J.2
Pan, C.-J.3
Chou, J.Y.4
-
19
-
-
33847420515
-
Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-β
-
Cheung, Y. Y. et al. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase- β. J. Clin. Invest. 117, 784-793 (2007).
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 784-793
-
-
Cheung, Y.Y.1
-
20
-
-
47049108414
-
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib
-
Kim, S. Y., Jun, H. S., Mead, P. A., Mansfield, B. C. & Chou, J. Y. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood 111, 5704-5711 (2008).
-
(2008)
Blood
, vol.111
, pp. 5704-5711
-
-
Kim, S.Y.1
Jun, H.S.2
Mead, P.A.3
Mansfield, B.C.4
Chou, J.Y.5
-
21
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
Boztug, K. et al. A syndrome with congenital neutropenia and mutations in G6PC3. N. Engl. J. Med. 360, 32-43 (2009).
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 32-43
-
-
Boztug, K.1
-
22
-
-
0032513057
-
Transmembrane topology of glucose-6-phosphatase
-
Pan, C.-J., Lei, K.-J., Annabi, B. & Chou, J. Y. Transmembrane topology of glucose-6-phosphatase. J. Biol. Chem. 273, 6144-6148 (1998).
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 6144-6148
-
-
Pan, C.-J.1
Lei, K.-J.2
Annabi, B.3
Chou, J.Y.4
-
24
-
-
46749101765
-
Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease
-
Chou, J. Y. & Mansfield, B. C. Mutations in the glucose-6- phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease. Hum. Mutat. 29, 921-930 (2008).
-
(2008)
Hum. Mutat
, vol.29
, pp. 921-930
-
-
Chou, J.Y.1
Mansfield, B.C.2
-
25
-
-
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, 766-771 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 766-771
-
-
Lei, K.-J.1
-
26
-
-
0032798615
-
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a
-
Bruni, N. et al. Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. Ann. Hum. Genet. 63, 141-146 (1999).
-
(1999)
Ann. Hum. Genet.
, vol.63
, pp. 141-146
-
-
Bruni, N.1
-
27
-
-
0034657037
-
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
-
Takahashi, K. et al. Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia. Am. J. Med. Genet. 92, 90-94 (2000).
-
(2000)
Am. J. Med. Genet.
, vol.92
, pp. 90-94
-
-
Takahashi, K.1
-
28
-
-
0037085388
-
The molecular basis of glycogen storage disease type 1a: Structure and function analysis of mutations in glucose-6-phosphatase
-
Shieh, J.-J. et al. The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. J. Biol. Chem. 277, 5047-5053 (2002).
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 5047-5053
-
-
Shieh, J.-J.1
-
29
-
-
8144220497
-
Glycogen storage disease type Ia in Argentina: Two novel glucose-6-phosphatase mutations affecting protein stability
-
Angaroni, C. J. et al. Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. Mol. Genet. Metab. 83, 276-279 (2004).
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 276-279
-
-
Angaroni, C.J.1
-
30
-
-
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. et al. 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, 360-361 (1998).
-
(1998)
J. Pediatr.
, vol.132
, pp. 360-361
-
-
Keller, K.M.1
-
31
-
-
0034164503
-
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes
-
Rake, J. P. et al. Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes. Hum. Mutat. 15, 381 (2000).
-
(2000)
Hum. Mutat
, vol.15
, pp. 381
-
-
Rake, J.P.1
-
32
-
-
0036392426
-
Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation
-
Matern D., Seydewitz, H. H., Bali, D., Lang, C. & Chen, Y. T. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur. J. Pediatr. 161 (Suppl. 1), S10-S19 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Matern, D.1
Seydewitz, H.H.2
Bali, D.3
Lang, C.4
Chen, Y.T.5
-
33
-
-
0035698173
-
Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors
-
Nakamura, T., Ozawa, T., Kawasaki, T., Nakamura, H. & Sugimura, H. Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors. J. Gastroenterol. Hepatol. 16, 1402-1408 (2001).
-
(2001)
J. Gastroenterol. Hepatol.
, vol.16
, pp. 1402-1408
-
-
Nakamura, T.1
Ozawa, T.2
Kawasaki, T.3
Nakamura, H.4
Sugimura, H.5
-
34
-
-
17544400025
-
Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
-
Akanuma, J. et al. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am. J. Med. Genet. 91, 107-112 (2000).
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 107-112
-
-
Akanuma, J.1
-
35
-
-
0033872302
-
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype
-
Weston, B. W. et al. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr. Res. 48, 329-334 (2000).
-
(2000)
Pediatr. Res.
, vol.48
, pp. 329-334
-
-
Weston, B.W.1
-
36
-
-
0033553477
-
Transmembrane topology of human glucose 6-phosphate transporter
-
Pan, C.-J., Lin, B. & Chou, J. Y. Transmembrane topology of human glucose 6-phosphate transporter. J. Biol. Chem. 274, 13865-13869 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 13865-13869
-
-
Pan, C.-J.1
Lin, B.2
Chou, J.Y.3
-
37
-
-
73849088813
-
Neutropenia in type Ib glycogen storage disease
-
Chou, J. Y., Jun, H. S. & Mansfield, B. C. Neutropenia in type Ib glycogen storage disease. Curr. Opin. Hematol. 17, 36-42 (2010).
-
(2010)
Curr. Opin. Hematol
, vol.17
, pp. 36-42
-
-
Chou, J.Y.1
Jun, H.S.2
Mansfield, B.C.3
-
38
-
-
0034602172
-
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter
-
Chen, L.-Y., Lin, B., Pan, C.-J., Hiraiwa, H. & Chou, J. Y. Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. J. Biol. Chem. 275, 34280-34286 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 34280-34286
-
-
Chen, L.-Y.1
Lin, B.2
Pan, C.-J.3
Hiraiwa, H.4
Chou, J.Y.5
-
39
-
-
0036899098
-
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib
-
Chen, L.-Y., Pan, C.-J., Shieh, J.-J. & Chou, J. Y. Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. Hum. Mol. Genet. 11, 3199-3207 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3199-3207
-
-
Chen, L.-Y.1
Pan, C.-J.2
Shieh, J.-J.3
Chou, J.Y.4
-
40
-
-
56149089995
-
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib
-
Chen, S.-Y., Pan, C.-J., Lee, S., Peng, W. & Chou, J. Y. Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. Mol. Genet. Metab. 95, 220-223 (2008).
-
(2008)
Mol. Genet. Metab.
, vol.95
, pp. 220-223
-
-
Chen, S.-Y.1
Pan, C.-J.2
Lee, S.3
Peng, W.4
Chou, J.Y.5
-
41
-
-
23044433600
-
Genotype/phenotype correlation in glycogen storage disease type 1b: A multicentre study and review of the literature
-
DOI 10.1007/s00431-005-1657-4
-
Melis, D. et al. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur. J. Pediatr. 164, 501-508 (2005). (Pubitemid 41073817)
-
(2005)
European Journal of Pediatrics
, vol.164
, Issue.8
, pp. 501-508
-
-
Melis, D.1
Fulceri, R.2
Parenti, G.3
Marcolongo, P.4
Gatti, R.5
Parini, R.6
Riva, E.7
Della Casa, R.8
Zammarchi, E.9
Andria, G.10
Benedetti, A.11
-
42
-
-
0033842818
-
Glycogen storage disease type Ib without neutropenia
-
Kure, S. et al. Glycogen storage disease type Ib without neutropenia. J. Pediatr. 137, 253-256 (2000).
-
(2000)
J. Pediatr.
, vol.137
, pp. 253-256
-
-
Kure, S.1
-
43
-
-
33645654565
-
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction
-
Martens, D. H. et al. A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction. J. Inherit. Metab. Dis. 29, 224-225 (2006).
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 224-225
-
-
Martens, D.H.1
-
44
-
-
33646481674
-
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
-
Angaroni, C. J. et al. Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene. Mol. Genet. Metab. 88, 96-99 (2006).
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 96-99
-
-
Angaroni, C.J.1
-
45
-
-
0036802351
-
Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein
-
Martin, C. C. et al. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. J. Mol. Endocrinol. 29, 205-222 (2002).
-
(2002)
J. Mol. Endocrinol.
, vol.29
, pp. 205-222
-
-
Martin, C.C.1
-
46
-
-
70349561436
-
A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia
-
Aróstegui, J. I. et al. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood 114, 1718-1719 (2009).
-
(2009)
Blood
, vol.114
, pp. 1718-1719
-
-
Aróstegui, J.I.1
-
47
-
-
70350435426
-
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
-
Xia, J. et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br. J. Haematol. 147, 535-542 (2009).
-
(2009)
Br. J. Haematol.
, vol.147
, pp. 535-542
-
-
Xia, J.1
-
48
-
-
77649340864
-
Hypovitaminosis D in glycogen storage disease type I
-
Banugaria, S. G., Austin, S. L., Boney, A., Weber, T. J. & Kishnani, P. S. Hypovitaminosis D in glycogen storage disease type I. Mol. Genet. Metab. 99, 434-437 (2010).
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 434-437
-
-
Banugaria, S.G.1
Austin, S.L.2
Boney, A.3
Weber, T.J.4
Kishnani, P.S.5
-
49
-
-
45849094471
-
Increased de novo lipogenesis and delayed conversion of large vLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a
-
Bandsma, R. H. et al. Increased de novo lipogenesis and delayed conversion of large vLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr. Res. 63, 702-707 (2008).
-
(2008)
Pediatr. Res.
, vol.63
, pp. 702-707
-
-
Bandsma, R.H.1
-
50
-
-
77949486669
-
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: Evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
-
Melis, D. et al. The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. J. Pediatr. 156, 663-670 (2010).
-
(2010)
J. Pediatr.
, vol.156
, pp. 663-670
-
-
Melis, D.1
-
51
-
-
0025324324
-
Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b
-
Kilpatrick, L. et al. Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. J. Clin. Invest. 86, 196-202 (1990).
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 196-202
-
-
Kilpatrick, L.1
-
52
-
-
0027212015
-
Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review
-
Gitzelmann, R. & Bosshard, N. U. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur. J. Pediatr. 152 (Suppl. 1), S33-S38 (1993).
-
(1993)
Eur. J. Pediatr.
, vol.152
, Issue.1 SUPPL.
-
-
Gitzelmann, R.1
Bosshard, N.U.2
-
53
-
-
0033837865
-
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European study on glycogen storage disease type I
-
Visser, G. et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J. Pediatr. 137, 187-191 (2000).
-
(2000)
J. Pediatr.
, vol.137
, pp. 187-191
-
-
Visser, G.1
-
54
-
-
0036390035
-
Association of glycogen storage disease 1b and Crohn disease: Results of a North American survey
-
Dieckgraefe, B. K., Korzenik, J. R., Husain, A. & Dieruf, L. Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur. J. Pediatr. 161 (Suppl. 1), S88-S92 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Dieckgraefe, B.K.1
Korzenik, J.R.2
Husain, A.3
Dieruf, L.4
-
55
-
-
33847278309
-
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
-
Melis, D. et al. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J. Pediatr. 150, 300-305 (2007).
-
(2007)
J. Pediatr.
, vol.150
, pp. 300-305
-
-
Melis, D.1
-
56
-
-
0038383286
-
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
-
Kuijpers, T. W. et al. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood 101, 5021-5024 (2003).
-
(2003)
Blood
, vol.101
, pp. 5021-5024
-
-
Kuijpers, T.W.1
-
57
-
-
10744222849
-
Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter
-
Chen, L.-Y. et al. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter. Hum. Mol. Genet. 12, 2547-2558 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2547-2558
-
-
Chen, L.-Y.1
-
58
-
-
0015275633
-
Carbohydrate metabolism by leukocytes
-
Stjernholm, R. L., Burns, C. P. & Hohnadel, J. H. Carbohydrate metabolism by leukocytes. Enzyme 13, 7-31 (1972).
-
(1972)
Enzyme
, vol.13
, pp. 7-31
-
-
Stjernholm, R.L.1
Burns, C.P.2
Hohnadel, J.H.3
-
59
-
-
0023502832
-
Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib
-
Bashan, N., Potashnik, R., Hagay, Y. & Moses, S. W. Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib. J. Inherit. Metab. Dis. 10, 234-241 (1987).
-
(1987)
J. Inherit. Metab. Dis.
, vol.10
, pp. 234-241
-
-
Bashan, N.1
Potashnik, R.2
Hagay, Y.3
Moses, S.W.4
-
60
-
-
0033009302
-
A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib
-
Verhoeven, A. J. et al. A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib. Pediatr. Res. 45, 881-885 (1999).
-
(1999)
Pediatr. Res.
, vol.45
, pp. 881-885
-
-
Verhoeven, A.J.1
-
61
-
-
0036120932
-
Lactate-induced translocation of GLUT1 and GLUT4 is not mediated by the phosphatidyl-inositol-3-kinase pathway in the rat heart
-
Medina, R. A., Southworth, R., Fuller, W. & Garlick, P. B. Lactate-induced translocation of GLUT1 and GLUT4 is not mediated by the phosphatidyl-inositol-3-kinase pathway in the rat heart. Basic Res. Cardiol. 97, 168-176 (2002).
-
(2002)
Basic Res. Cardiol.
, vol.97
, pp. 168-176
-
-
Medina, R.A.1
Southworth, R.2
Fuller, W.3
Garlick, P.B.4
-
62
-
-
0037095635
-
12 skeletal muscle cells
-
12 skeletal muscle cells. Arch. Biochem. Biophys. 401, 205-214 (2002).
-
(2002)
Arch. Biochem. Biophys.
, vol.401
, pp. 205-214
-
-
Kim, M.S.1
-
63
-
-
0036387417
-
Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)
-
Rake, J. P. et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur. J. Pediatr. 161 (Suppl. 1), S20-S34 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Rake, J.P.1
-
64
-
-
84882912514
-
-
Ch. 41 eds Lifton, R. P. et al., Academic Press, New York
-
Chou, J. Y., Mansfield, B. C. & Weinstein, D. A. in Genetic Diseases of the Kidney Ch. 41 (eds Lifton, R. P. et al.) 693-708 (Academic Press, New York, 2009).
-
(2009)
Genetic Diseases of the Kidney
, pp. 693-708
-
-
Chou, J.Y.1
Mansfield, B.C.2
Weinstein, D.A.3
-
65
-
-
0034745335
-
Decreased urinary citrate excretion in type 1a glycogen storage disease
-
Weinstein, D. A., Somers, M. J. & Wolfsdorf, J. I. Decreased urinary citrate excretion in type 1a glycogen storage disease. J. Pediatr. 138, 378-382 (2001).
-
(2001)
J. Pediatr.
, vol.138
, pp. 378-382
-
-
Weinstein, D.A.1
Somers, M.J.2
Wolfsdorf, J.I.3
-
66
-
-
0023858590
-
Renal disease in type I glycogen storage disease
-
Chen, Y. T., Coleman, R. A., Scheinman, J. I., Kolbeck, P. C. & Sidbury, J. B. Renal disease in type I glycogen storage disease. N. Engl. J. Med. 318, 7-11 (1988).
-
(1988)
N. Engl. J. Med.
, vol.318
, pp. 7-11
-
-
Chen, Y.T.1
Coleman, R.A.2
Scheinman, J.I.3
Kolbeck, P.C.4
Sidbury, J.B.5
-
67
-
-
0023872905
-
Renal glomerular and tubular abnormalities in glycogen storage disease type I
-
Verani, R. & Bernstein, J. Renal glomerular and tubular abnormalities in glycogen storage disease type I. Arch. Pathol. Lab. Med. 112, 271-274 (1988). (Pubitemid 18076309)
-
(1988)
Archives of Pathology and Laboratory Medicine
, vol.112
, Issue.3
, pp. 271-274
-
-
Verani, R.1
Bernstein, J.2
-
68
-
-
0024390176
-
Hyperfiltration and renal disease in glycogen storage disease, type I
-
Baker, L. et al. Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int. 35, 1345-1350 (1989).
-
(1989)
Kidney Int.
, vol.35
, pp. 1345-1350
-
-
Baker, L.1
-
69
-
-
2942689739
-
Transforming growth factorbeta in renal disease with glycogen storage disease I
-
Urushihara, M. et al. Transforming growth factorbeta in renal disease with glycogen storage disease I. Pediatr. Nephrol. 19, 676-678 (2004).
-
(2004)
Pediatr. Nephrol.
, vol.19
, pp. 676-678
-
-
Urushihara, M.1
-
70
-
-
40049110258
-
Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia
-
Yiu, W. H. et al. Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia. Kidney Int. 73, 716-723 (2008).
-
(2008)
Kidney Int.
, vol.73
, pp. 716-723
-
-
Yiu, W.H.1
-
71
-
-
77950350306
-
Oxidative stress mediates nephropathy in type Ia glycogen storage disease
-
Yiu, W. H., Mead, P. A., Jun, H. S., Mansfield, B. C. & Chou, J. Y. Oxidative stress mediates nephropathy in type Ia glycogen storage disease. Lab. Invest. 90, 620-629 (2010).
-
(2010)
Lab. Invest.
, vol.90
, pp. 620-629
-
-
Yiu, W.H.1
Mead, P.A.2
Jun, H.S.3
Mansfield, B.C.4
Chou, J.Y.5
-
72
-
-
0027154217
-
Glycogen storage disease I and hepatocellular tumours
-
Bianchi, L. Glycogen storage disease I and hepatocellular tumours. Eur. J. Pediatr. 52 (Suppl. 1), S63-S70 (1993).
-
(1993)
Eur. J. Pediatr.
, vol.52
, Issue.1 SUPPL.
-
-
Bianchi, L.1
-
73
-
-
0030987931
-
Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature
-
Labrune, P., Trioche, P., Duvaltier, I., Chevalier, P. & Odièvre, M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J. Pediatr. Gastroenterol. Nutr. 24, 276-279 (1997).
-
(1997)
J. Pediatr. Gastroenterol. Nutr.
, vol.24
, pp. 276-279
-
-
Labrune, P.1
Trioche, P.2
Duvaltier, I.3
Chevalier, P.4
Odièvre, M.5
-
74
-
-
0036387477
-
Glycogen storage disease type I: Pathophysiology of liver adenomas
-
Lee, P. J. Glycogen storage disease type I: pathophysiology of liver adenomas. Eur. J. Pediatr. 161 (Suppl. 1), S46-S49 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Lee, P.J.1
-
75
-
-
0037111732
-
Inappropriate expression of hepcidin is associated with iron refractory anemia: Implications for the anemia of chronic disease
-
Weinstein, D. A. et al. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood 100, 3776-3781 (2002).
-
(2002)
Blood
, vol.100
, pp. 3776-3781
-
-
Weinstein, D.A.1
-
76
-
-
21144443890
-
Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
-
Franco, L. M. et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J. Inherit. Metab. Dis. 28, 153-162 (2005).
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 153-162
-
-
Franco, L.M.1
-
77
-
-
40849134097
-
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
-
Di Rocco, M. et al. Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Mol. Genet. Metab. 93, 398-402 (2008).
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 398-402
-
-
Di Rocco, M.1
-
78
-
-
39149129656
-
Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia
-
Kim, S. Y., Weinstein, D. A., Starost, M. F., Mansfield, B. C. & Chou, J. Y. Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia. J. Hepatol. 48, 479-485 (2008).
-
(2008)
J. Hepatol.
, vol.48
, pp. 479-485
-
-
Kim, S.Y.1
Weinstein, D.A.2
Starost, M.F.3
Mansfield, B.C.4
Chou, J.Y.5
-
79
-
-
67649668963
-
Activation of glycolysis and apoptosis in glycogen storage disease type Ia
-
Sun, B. et al. Activation of glycolysis and apoptosis in glycogen storage disease type Ia. Mol. Genet. Metab. 97, 267-271 (2009).
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 267-271
-
-
Sun, B.1
-
80
-
-
33645223878
-
Genotype-phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC
-
Zucman-Rossi, J. et al. Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC. Hepatology 43, 515-524 (2006).
-
(2006)
Hepatology
, vol.43
, pp. 515-524
-
-
Zucman-Rossi, J.1
-
81
-
-
34250763945
-
Hepatocellular adenoma subtype classification using molecular markers and immunohistochemistry
-
Bioulac-Sage, P. et al. Hepatocellular adenoma subtype classification using molecular markers and immunohistochemistry. Hepatology 46, 740-748 (2007).
-
(2007)
Hepatology
, vol.46
, pp. 740-748
-
-
Bioulac-Sage, P.1
-
82
-
-
70450186130
-
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease
-
Kishnani, P. S. et al. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum. Mol. Genet. 18, 4781-4790 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4781-4790
-
-
Kishnani, P.S.1
-
83
-
-
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, 203-209 (1996).
-
(1996)
Nat. Genet.
, vol.13
, pp. 203-209
-
-
Lei, K.-J.1
-
84
-
-
0035235572
-
Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)
-
Kishnani, P. S. et al. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet. Pathol. 38, 83-91 (2001).
-
(2001)
Vet. Pathol.
, vol.38
, pp. 83-91
-
-
Kishnani, P.S.1
-
85
-
-
0034091934
-
Glycogen storage disease type Ia: Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
-
Rake, J. P. et al. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart. Eur. J. Pediatr. 159, 322-330 (2000).
-
(2000)
Eur. J. Pediatr.
, vol.159
, pp. 322-330
-
-
Rake, J.P.1
-
86
-
-
0017231537
-
Continuous nocturnal intragastric feeding for management of type 1 glycogenstorage disease
-
Greene, H. L., Slonim, A. E., O'Neill, J. A. Jr & Burr, I. M. Continuous nocturnal intragastric feeding for management of type 1 glycogenstorage disease. N. Engl. J. Med. 294, 423-425 (1976).
-
(1976)
N. Engl. J. Med.
, vol.294
, pp. 423-425
-
-
Greene, H.L.1
Slonim, A.E.2
O'Neill Jr., J.A.3
Burr, I.M.4
-
87
-
-
0021336008
-
Cornstarch therapy in type I glycogen-storage disease
-
Chen, Y. T., Cornblath, M. & Sidbury, J. B. Cornstarch therapy in type I glycogen-storage disease. N. Engl. J. Med. 310, 171-175 (1984).
-
(1984)
N. Engl. J. Med.
, vol.310
, pp. 171-175
-
-
Chen, Y.T.1
Cornblath, M.2
Sidbury, J.B.3
-
88
-
-
67649224091
-
Emerging therapies for glycogen storage disease type I
-
Koeberl, D. D., Kishnani, P. S., Bali, D. & Chen, Y. T. Emerging therapies for glycogen storage disease type I. Trends Endocrinol. Metab. 20, 252-258 (2009).
-
(2009)
Trends Endocrinol. Metab.
, vol.20
, pp. 252-258
-
-
Koeberl, D.D.1
Kishnani, P.S.2
Bali, D.3
Chen, Y.T.4
-
89
-
-
0036390056
-
Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease
-
Weinstein, D. A. & Wolfsdorf, J. I. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur. J. Pediatr. 161 (Suppl. 1), S35-S39 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Weinstein, D.A.1
Wolfsdorf, J.I.2
-
90
-
-
55849123967
-
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib
-
Correia, C. E. et al. Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am. J. Clin. Nutr. 88, 1272-1276 (2008).
-
(2008)
Am. J. Clin. Nutr.
, vol.88
, pp. 1272-1276
-
-
Correia, C.E.1
-
91
-
-
34548146024
-
Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk
-
Nagasaka, H. et al. Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk. Eur. J. Pediatr. 166, 1009-1016 (2007).
-
(2007)
Eur. J. Pediatr.
, vol.166
, pp. 1009-1016
-
-
Nagasaka, H.1
-
92
-
-
22044453413
-
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: A multicentre retrospective study
-
DOI 10.1111/j.1365-2265.2005.02292.x
-
Melis, D. et al. Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. Clin. Endocrinol. (Oxf.) 63, 19-25 (2005). (Pubitemid 40966397)
-
(2005)
Clinical Endocrinology
, vol.63
, Issue.1
, pp. 19-25
-
-
Melis, D.1
Parenti, G.2
Gatti, R.3
Della Casa, R.4
Parini, R.5
Riva, E.6
Burlina, A.B.7
Vici, C.D.8
Di Rocco, M.9
Furlan, F.10
Torcoletti, M.11
Papadia, F.12
Donati, A.13
Benigno, V.14
Andria, G.15
-
93
-
-
73449099600
-
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition
-
Martens, D. H. et al. Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin. J. Am. Soc. Nephrol. 4, 1741-1746 (2009).
-
(2009)
Clin. J. Am. Soc. Nephrol.
, vol.4
, pp. 1741-1746
-
-
Martens, D.H.1
-
94
-
-
0036390010
-
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1
-
Visser, G. et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur. J. Pediatr. 161 (Suppl. 1), S83-S87 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Visser, G.1
-
95
-
-
0035863817
-
Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b
-
Calderwood, S. et al. Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. Blood 97, 376-382 (2001).
-
(2001)
Blood
, vol.97
, pp. 376-382
-
-
Calderwood, S.1
-
96
-
-
0036392378
-
Consensus guidelines for management of glycogen storage disease type 1b-European study on glycogen storage disease type 1
-
Visser, G. et al. Consensus guidelines for management of glycogen storage disease type 1b-European Study on Glycogen Storage Disease Type 1. Eur. J. Pediatr. 161 (Suppl. 1), S120-S123 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Visser, G.1
-
97
-
-
78649442640
-
Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib
-
doi:10.1007/s10545-077-0774-9
-
Davis, M. K., Rufo, P. A., Polyak, S. F. & Weinstein, D. A. Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib. J. Inherit. Metab. Dis. doi:10.1007/s10545-077-0774-9.
-
J. Inherit. Metab. Dis.
-
-
Davis, M.K.1
Rufo, P.A.2
Polyak, S.F.3
Weinstein, D.A.4
-
98
-
-
19944430855
-
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia
-
Experience of the French Severe Chronic Neutropenia Study Group
-
Donadieu, J. et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 90, 45-53 (2005).
-
(2005)
Haematologica
, vol.90
, pp. 45-53
-
-
Donadieu, J.1
-
99
-
-
0021637728
-
Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease
-
Simmons, P. S., Smithson, W. A., Gronert, G. A. & Haymond, M. W. Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease. J. Pediatr. 105, 428-431 (1984).
-
(1984)
J. Pediatr.
, vol.105
, pp. 428-431
-
-
Simmons, P.S.1
Smithson, W.A.2
Gronert, G.A.3
Haymond, M.W.4
-
100
-
-
0036900584
-
Acute myelogenous leukemia and glycogen storage disease 1b
-
Pinsk, M. et al. Acute myelogenous leukemia and glycogen storage disease 1b. J. Pediatr. Hematol. Oncol. 24, 756-758 (2002).
-
(2002)
J. Pediatr. Hematol. Oncol.
, vol.24
, pp. 756-758
-
-
Pinsk, M.1
-
101
-
-
54049115503
-
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t (3;8) (q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report
-
Schroeder, T., Hildebrandt, B., Mayatepek, E., Germing, U. & Haas, R. A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t (3;8) (q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. J. Med. Case Reports 2, 319 (2008).
-
(2008)
J. Med. Case Reports
, vol.2
, pp. 319
-
-
Schroeder, T.1
Hildebrandt, B.2
Mayatepek, E.3
Germing, U.4
Haas, R.5
-
102
-
-
0032772405
-
Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia
-
Faivre, L. et al. Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. J. Inherit. Metab. Dis. 22, 723-732 (1999).
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 723-732
-
-
Faivre, L.1
-
103
-
-
0032726517
-
Liver transplantation for glycogen storage disease types, I, III, and I V
-
Matern, D. et al. Liver transplantation for glycogen storage disease types, I, III, and I V. Eur. J. Pediatr. 158 (Suppl. 2), S43-S48 (1999).
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.2 SUPPL.
-
-
Matern, D.1
-
104
-
-
40149095619
-
Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure
-
Davis, M. K. & Weinstein, D. A. Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr. Transplant. 12, 137-145 (2008).
-
(2008)
Pediatr. Transplant
, vol.12
, pp. 137-145
-
-
Davis, M.K.1
Weinstein, D.A.2
-
105
-
-
68049116914
-
Liver transplantation for glycogen storage disease type Ia
-
Reddy, S. K. et al. Liver transplantation for glycogen storage disease type Ia. J. Hepatol. 51, 483-490 (2009).
-
(2009)
J. Hepatol.
, vol.51
, pp. 483-490
-
-
Reddy, S.K.1
-
106
-
-
0036390009
-
Glycogen storage disease type I: Indications for liver and/or kidney transplantation
-
Labrune, P. Glycogen storage disease type I: indications for liver and/or kidney transplantation. Eur. J. Pediatr. 161 (Suppl. 1), S53-S55 (2002).
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.1 SUPPL.
-
-
Labrune, P.1
-
107
-
-
34848918869
-
Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia
-
Reddy, S. K. et al. Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J. Hepatol. 47, 658-663 (2007).
-
(2007)
J. Hepatol.
, vol.47
, pp. 658-663
-
-
Reddy, S.K.1
-
108
-
-
34250678527
-
Long-term results of living donor liver transplantation for glycogen storage disorders in children
-
Iyer, S. G. et al. Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl. 13, 848-852 (2007).
-
(2007)
Liver Transpl
, vol.13
, pp. 848-852
-
-
Iyer, S.G.1
-
109
-
-
71249092974
-
Living donor liver transplantation for glycogen storage disease type Ib
-
Kasahara, M. et al. Living donor liver transplantation for glycogen storage disease type Ib. Liver Transpl. 15, 1867-1871 (2009).
-
(2009)
Liver Transpl
, vol.15
, pp. 1867-1871
-
-
Kasahara, M.1
-
110
-
-
60549109855
-
Reduced-size liver transplantation for glycogen storage disease
-
Ji, H. F. et al. Reduced-size liver transplantation for glycogen storage disease. Hepatobiliary Pancreat. Dis. Int. 8, 106-108 (2009).
-
(2009)
Hepatobiliary Pancreat. Dis. Int.
, vol.8
, pp. 106-108
-
-
Ji, H.F.1
-
111
-
-
33749382320
-
Bone-marrow derived cells require a functional glucose-6-phosphate transporter for normal myeloid functions
-
Kim, S. Y. et al. Bone-marrow derived cells require a functional glucose-6-phosphate transporter for normal myeloid functions. J. Biol. Chem. 281, 28794-28801 (2006).
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 28794-28801
-
-
Kim, S.Y.1
-
112
-
-
38149086645
-
A. Bone marrow transplantation in glycogen storage disease type 1b
-
Pierre, G. et al. A. Bone marrow transplantation in glycogen storage disease type 1b. J. Pediatr. 152, 286-288 (2008).
-
(2008)
J. Pediatr.
, vol.152
, pp. 286-288
-
-
Pierre, G.1
-
113
-
-
0033979899
-
Correction of glycogen storage disease type 1a in a mouse model by gene therapy
-
Zingone, A. et al. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J. Biol. Chem. 275, 828-832 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 828-832
-
-
Zingone, A.1
-
114
-
-
34250790152
-
Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia
-
Koeberl, D. D. et al. Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia. Mol. Ther. 15, 1253-1258 (2007).
-
(2007)
Mol. Ther.
, vol.15
, pp. 1253-1258
-
-
Koeberl, D.D.1
-
115
-
-
32444436226
-
Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer
-
Ghosh, A. et al. Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer. Gene Ther. 13, 321-329 (2006).
-
(2006)
Gene Ther.
, vol.13
, pp. 321-329
-
-
Ghosh, A.1
-
116
-
-
33747600886
-
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
-
Koeberl, D. D. et al. Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther. 13, 1281-1289 (2006).
-
(2006)
Gene Ther.
, vol.13
, pp. 1281-1289
-
-
Koeberl, D.D.1
-
117
-
-
41149109650
-
AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia
-
Koeberl, D. D. et al. AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol. Ther. 16, 665-672 (2008).
-
(2008)
Mol. Ther.
, vol.16
, pp. 665-672
-
-
Koeberl, D.D.1
-
118
-
-
77953136183
-
Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy
-
Yiu, W. H. et al. Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol. Ther. 18, 1076-1084 (2010).
-
(2010)
Mol. Ther.
, vol.18
, pp. 1076-1084
-
-
Yiu, W.H.1
-
119
-
-
33748501920
-
Alpha2, 3 and alpha2, 6 N-linked sialic acids facilitate efficient binding and transduction by adeno-associated virus types 1 and 6
-
Wu, Z., Miller, E., Agbandje-McKenna, M. & Samulski, R. J. Alpha2, 3 and alpha2, 6 N-linked sialic acids facilitate efficient binding and transduction by adeno-associated virus types 1 and 6. J. Virol. 80, 9093-9103 (2006).
-
(2006)
J. Virol.
, vol.80
, pp. 9093-9103
-
-
Wu, Z.1
Miller, E.2
Agbandje-McKenna, M.3
Samulski, R.J.4
-
120
-
-
33748945422
-
The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9
-
Akache, B. et al. The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9. J. Virol. 80, 9831-9836 (2006).
-
(2006)
J. Virol.
, vol.80
, pp. 9831-9836
-
-
Akache, B.1
-
121
-
-
33846488084
-
Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice
-
Yiu, W. H., Pan, C.-J., Allamarvdasht, M., Kim, S. Y. & Chou, J. Y. Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice. Gene Ther. 14, 219-226 (2007).
-
(2007)
Gene Ther.
, vol.14
, pp. 219-226
-
-
Yiu, W.H.1
Pan, C.-J.2
Allamarvdasht, M.3
Kim, S.Y.4
Chou, J.Y.5
-
122
-
-
70349745457
-
Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice
-
Yiu, W. H. et al. Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice. J. Hepatol. 51, 909-917 (2009).
-
(2009)
J. Hepatol.
, vol.51
, pp. 909-917
-
-
Yiu, W.H.1
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