Y. Chen, C. Scriver, A. Beaudet, W. Sly, and D. Valle, Glycogen storage diseases In The Metabolic Bases of Inherited Disease, pp.1521-1551

J. Rake, G. Visser, P. Labrune, J. Leonard, K. Ullrich 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, pp.161-181, 2002.

E. Van-schaftingen and I. Gerin, The glucose-6-phosphatase system, Biochemical Journal, vol.362, issue.3, pp.513-532, 2002.
DOI : 10.1042/bj3620513

S. Moses, Historical highlights and unsolved problems in glycogen storage disease type 1, European Journal of Pediatrics, vol.275, issue.Suppl 454, pp.2-9, 2002.
DOI : 10.1007/BF02679988

J. Ekstein, B. Rubin, S. Anderson, D. Weinstein, G. Bach et al., Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population, American Journal of Medical Genetics, vol.4, issue.2, pp.162-164, 2004.
DOI : 10.1002/ajmg.a.30232

G. Smit, J. Rake, H. Akman, S. Dimauro, J. Fernandes et al., The Glycogen-Storage Diseases and Related Disorders " Liver glycogenoses, In Inborn Metabolic Diseases, pp.101-112, 2006.

J. Nuoffer, P. Mullis, and U. Wiesmann, Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth, Journal of Inherited Metabolic Disease, vol.20, issue.6, pp.790-798, 1997.
DOI : 10.1023/A:1005319818015

G. Däublin, B. Schwahn, and U. Wendel, Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence, European Journal of Pediatrics, vol.29, issue.Suppl 1, pp.161-201, 2002.
DOI : 10.1007/BF02679992

P. Lee, J. Patel, M. Fewtrel, J. Leonard, and N. Bishop, Bone mineralisation in type 1 glycogen storage disease, European Journal of Pediatrics, vol.205, issue.6, pp.483-487, 1995.
DOI : 10.1007/BF02029361

E. Schönau, B. Schwahn, and F. Rauch, The muscle-bone relationship: methods and management???perspectives in glycogen storage disease, European Journal of Pediatrics, vol.14, issue.1, pp.161-50, 2002.
DOI : 10.1007/BF02679994

D. Melis, R. Pivonello, G. Parenti, D. Casa, R. Salerno et al., Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I, The Journal of Pediatrics, vol.150, issue.3, pp.300-305, 2007.
DOI : 10.1016/j.jpeds.2006.11.056

L. De-parscau, P. Guibaud, P. Labrune, and M. Odièvre, Evolution à long terme des glycogénoses hépatiques. Etude rétrospective de 76 observations, Arch Fr Pediatr, vol.45, pp.641-645, 1988.

G. Smit, The long-term outcome of patients with glycogen storage disease type Ia, European Journal of Pediatrics, vol.46, issue.S1, pp.52-55, 1993.
DOI : 10.1007/BF02072089

G. Talente, R. Coleman, C. Alter, L. Baker, B. Brown et al., Glycogen Storage Disease in Adults, Annals of Internal Medicine, vol.120, issue.3, pp.218-226, 1994.
DOI : 10.7326/0003-4819-120-3-199402010-00008

C. Pizzo, Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension, Pediatrics, vol.65, pp.341-343, 1980.

P. Labrune, P. Trioche, I. Duvaltier, C. P. Odièvre, and M. , Hepatocellular Adenomas in Glycogen Storage Disease Type I and III: A Series of 43 Patients and Review of the Literature, Journal of Pediatric Gastroenterology &amp Nutrition, vol.24, issue.3, pp.276-279, 1997.
DOI : 10.1097/00005176-199703000-00008

L. Bianchi, Glycogen storage disease I and hepatocellular tumours, European Journal of Pediatrics, vol.142, issue.S1, pp.63-70, 1993.
DOI : 10.1007/BF02072092

P. Lee, Glycogen storage disease type I: pathophysiology of liver adenomas, European Journal of Pediatrics, vol.35, issue.Suppl 2, pp.46-49, 2002.
DOI : 10.1007/BF02679993

H. Laumonier, P. Bioulac-sage, C. Laurent, J. Zucman-rossi, C. Balabaud et al., Hepatocellular adenomas: Magnetic resonance imaging features as a function of molecular pathological classification, Hepatology, vol.241, issue.3, pp.808-818, 2008.
DOI : 10.1002/hep.22417

C. Pozzato, C. Dall-'asta, G. Radaelli, M. Torcoletti, A. Formenti et al., Usefulness of chemical-shift MRI in discriminating increased liver echogenicity in glycogenosis, Digestive and Liver Disease, vol.39, issue.11, pp.1018-1023, 2007.
DOI : 10.1016/j.dld.2007.06.008

D. Weinstein, M. Somers, and H. Wolfsdorf, Decreased urinary citrate excretion in type 1a glycogen storage disease, The Journal of Pediatrics, vol.138, issue.3, pp.378-382, 2001.
DOI : 10.1067/mpd.2001.111322

C. Scales, A. Chandrashekar, M. Robinson, D. Cantor, J. Sullivan et al., Stone Forming Risk Factors in Patients With Type Ia Glycogen Storage Disease, The Journal of Urology, vol.183, issue.3, pp.1022-1025, 2010.
DOI : 10.1016/j.juro.2009.11.040

W. Yiu, P. Mead, H. Jun, B. Mansfield, and J. Chou, Oxidative stress mediates nephropathy in type Ia glycogen storage disease, Laboratory Investigation, vol.15, issue.4, pp.620-629, 2010.
DOI : 10.1111/j.1365-2265.2005.02292.x

D. Melis, G. Parenti, R. Gatti, R. Casa, R. Parini et al., Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage Froissart et al27 disease type 1: a multicentre retrospective study, Orphanet Journal of Rare Diseases Clin Endocrinol, vol.6, issue.63, pp.27-46, 2005.

J. Cohen, A. Vinik, J. Faller, and I. Fox, Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production., Journal of Clinical Investigation, vol.75, issue.1, pp.251-257, 1985.
DOI : 10.1172/JCI111681

M. Kikuchi, K. Hasegawa, I. Handa, M. Watabe, K. Narisawa et al., Chronic pancreatitis in a child with glycogen storage disease type 1, European Journal of Pediatrics, vol.50, issue.12, pp.852-853, 1991.
DOI : 10.1007/BF01955007

F. Ubels, J. Rake, J. Slaets, G. Smit, and A. Smit, Is glycogen storage disease 1a associated with atherosclerosis?, Eur J Pediatr, pp.161-62, 2002.

B. Wittenstein, M. Klein, B. Finckh, K. Ullrich, and A. Kohlschutter, Radical trapping in glycogen storage disease 1a, European Journal of Pediatrics, vol.93, issue.Suppl 1, pp.70-74, 2002.
DOI : 10.1007/BF02679999

A. Nguyen, C. Pan, D. Weinstein, and J. Chou, Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients, Molecular Genetics and Metabolism, vol.89, issue.3, pp.233-238, 2006.
DOI : 10.1016/j.ymgme.2006.05.002

A. Bernier, C. Correia, M. Haller, D. Theriaque, J. Shuster et al., Vascular Dysfunction in Glycogen Storage Disease Type I, The Journal of Pediatrics, vol.154, issue.4, pp.588-591, 2009.
DOI : 10.1016/j.jpeds.2008.10.048

M. Humbert, P. Labrune, and G. Simonneau, Severe pulmonary arterial hypertension in type 1 glycogen storage disease, European Journal of Pediatrics, vol.128, issue.1, pp.93-96, 2002.
DOI : 10.1007/BF02680003

M. Humbert, P. Labrune, O. Sitbon, L. Gall, C. Callebert et al., Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis, European Respiratory Journal, vol.20, issue.1, pp.59-65, 2002.
DOI : 10.1183/09031936.02.00258702

G. Visser, J. Rake, J. Fernandes, P. Labrune, J. Leonard 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, The Journal of Pediatrics, vol.137, issue.2, pp.187-191, 2000.
DOI : 10.1067/mpd.2000.105232

B. Dieckgraefe, J. Korzenik, A. Husain, and L. Dieruf, Association of glycogen storage disease 1b and Crohn disease: results of a North American survey, Eur J Pediatr, pp.161-88, 2002.

D. Melis, G. Parenti, D. Casa, R. Sibilio, M. et al., Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years???follow-up of patients with a wide spectrum of gastrointestinal signs, Acta Paediatrica, vol.5, issue.12, pp.1415-1421, 2003.
DOI : 10.1111/j.1651-2227.2003.tb00825.x

M. Davis, P. Rufo, S. Polyak, and D. Weinstein, Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib, Journal of Inherited Metabolic Disease, vol.31, issue.S3, 2007.
DOI : 10.1007/s10545-007-0774-9

M. Davis, J. Valentine, D. Weinstein, and S. Polyak, Antibodies to CBir1 Are Associated With Glycogen Storage Disease Type Ib, Journal of Pediatric Gastroenterology and Nutrition, vol.51, issue.1, pp.14-18, 2010.
DOI : 10.1097/MPG.0b013e3181c15f78

S. Kure, D. Hou, Y. Suzuki, A. Yamagishi, M. Hiratsuka et al., Glycogen storage disease type Ib without neutropenia, The Journal of Pediatrics, vol.137, issue.2, pp.253-256, 2000.
DOI : 10.1067/mpd.2000.107472

G. Miltenberger-miltenyi, L. Szonyi, L. Balogh, G. Utermann, and A. Janecke, Mutation spectrum of type I glycogen storage disease in Hungary, Journal of Inherited Metabolic Disease, vol.48, issue.6, pp.939-944, 2005.
DOI : 10.1007/s10545-005-0186-7

D. Martens, T. Kuijpers, N. Maianski, J. Rake, G. Smit et al., A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction, Journal of Inherited Metabolic Disease, vol.48, issue.1, pp.224-225, 2006.
DOI : 10.1007/s10545-006-0146-x

L. Chen, B. Lin, C. Pan, H. Hiraiwa, and J. Chou, Structural Requirements for the Stability and Microsomal Transport Activity of the Human Glucose 6-Phosphate Transporter, Journal of Biological Chemistry, vol.275, issue.44, pp.34280-34286, 2000.
DOI : 10.1074/jbc.M006439200

D. Matern, H. Seydewitz, D. Bali, C. Lang, and Y. Chen, Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation, Eur J Pediatr, pp.161-171, 2002.

G. Visser, J. Rake, P. Labrune, J. Leonard, S. Moses et al., Consensus guidelines for management of glycogen storage disease type 1b

V. Mairovitz, P. Labrune, H. Fernandez, F. Audibert, and R. Frydman, Contraception and pregnancy in women affected by glycogen storage diseases, Eur J Pediatr, pp.161-97, 2002.

D. Martens, J. Rake, M. Schwarz, K. Ullrich, D. Weinstein et al., Pregnancies in glycogen storage disease type Ia, American Journal of Obstetrics and Gynecology, vol.198, issue.6, pp.646-647, 2008.
DOI : 10.1016/j.ajog.2007.11.050

A. Dagli, P. Lee, C. Correia, C. Rodriguez, K. Bhattacharya et al., Pregnancy in glycogen storage disease type??Ib: gestational care and report of first successful deliveries, Journal of Inherited Metabolic Disease, vol.33, issue.S3, 2010.
DOI : 10.1007/s10545-010-9054-1

W. Arion, A. Lange, H. Walls, and L. Ballas, Evidence for the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system, J Biol Chem, vol.255, pp.10396-10406, 1980.

H. Hiraiwa, C. Pan, B. Lin, S. Moses, and J. Chou, Inactivation of the Glucose 6-Phosphate Transporter Causes Glycogen Storage Disease Type 1b, Journal of Biological Chemistry, vol.274, issue.9, pp.5532-5536, 1999.
DOI : 10.1074/jbc.274.9.5532

J. Nordlie, K. Sukalski, J. Munoz, and J. Baldwin, Type Ic, a novel GSD. Underlying mechanisms, J Biol Chem, vol.258, pp.9739-9744, 1983.

M. Veiga-da-cunha, I. Gerin, Y. Chen, P. Lee, J. Leonard et al., The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a, European Journal of Human Genetics, vol.7, issue.6, pp.717-723, 1999.
DOI : 10.1038/sj.ejhg.5200366

B. Lin, H. Hiraiwa, C. Pan, R. Nordlie, and J. Chou, Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene, Human Genetics, vol.105, issue.5, pp.515-517, 1999.
DOI : 10.1007/s004390051140

D. Melis, A. Havelaar, E. Verbeek, G. Smit, A. Benedetti et al., NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic, Journal of Inherited Metabolic Disease, vol.27, issue.6, pp.725-733, 2004.
DOI : 10.1023/B:BOLI.0000045755.89308.2f

S. Chen, C. Pan, K. Nandigama, B. Mansfield, S. Ambudkar et al., The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic, The FASEB Journal, vol.22, issue.7, pp.2206-2213, 2008.
DOI : 10.1096/fj.07-104851

J. Shieh, C. Pan, B. Mansfield, and J. Chou, A Glucose-6-phosphate Hydrolase, Widely Expressed Outside the Liver, Can Explain Age-dependent Resolution of Hypoglycemia in Glycogen Storage Disease Type Ia, Journal of Biological Chemistry, vol.278, issue.47, pp.47098-47103, 2003.
DOI : 10.1074/jbc.M309472200

Y. Wang, J. Oeser, C. Yang, S. Sarkar, S. Hackl et al., Deletion of the Gene Encoding the Ubiquitously Expressed Glucose-6-phosphatase Catalytic Subunit-related Protein (UGRP)/Glucose-6-phosphatase Catalytic Subunit-beta Results in Lowered Plasma Cholesterol and Elevated Glucagon, Journal of Biological Chemistry, vol.281, issue.52, pp.39982-39989, 2006.
DOI : 10.1074/jbc.M605858200

K. Ihara, A. Nomura, S. Hikino, H. Takada, and T. Hara, Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells, Journal of Inherited Metabolic Disease, vol.23, issue.6, pp.583-592, 2000.
DOI : 10.1023/A:1005677912539

Y. Chen, J. Shieh, B. Lin, C. Pan, J. Gao et al., Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter, Human Molecular Genetics, vol.12, issue.19, pp.2547-2558, 2003.
DOI : 10.1093/hmg/ddg263

S. Kim, H. Jun, P. Mead, B. Mansfield, and J. Chou, Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib, Blood, vol.111, issue.12, pp.5704-5711, 2008.
DOI : 10.1182/blood-2007-12-129114

Y. Cheung, S. Kim, W. Yiu, C. Pan, H. Jun et al., Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase?????, Journal of Clinical Investigation, vol.117, issue.3, pp.784-793, 2007.
DOI : 10.1172/JCI30443

A. Kovacevic, R. Ehrlich, E. Mayatepek, U. Wendel, and B. Schwahn, Glycogen storage disease type Ib without hypoglycemia, Molecular Genetics and Metabolism, vol.90, issue.3, pp.349-350, 2007.
DOI : 10.1016/j.ymgme.2006.11.002

R. Bandsma, G. Smit, and F. Kuipers, Disturbed lipid metabolism in glycogen storage disease type 1, European Journal of Pediatrics, vol.50, issue.1, pp.65-69, 2002.
DOI : 10.1007/BF02679998

J. Zucman-rossi, E. Jeannot, J. Nhieu, J. Scoazec, C. Guettier et al., Genotype???phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC, Hepatology, vol.41, issue.3, pp.515-524, 2006.
DOI : 10.1002/hep.21068

URL : https://hal.archives-ouvertes.fr/inserm-00130314

P. Kishnani, T. Chuang, D. Bali, D. Koeberl, S. Austin et al., Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease, Human Molecular Genetics, vol.18, issue.24, pp.4781-4790, 2009.
DOI : 10.1093/hmg/ddp441

D. Rocco, M. Calevo, M. Taro, M. Melis, D. Allegri et al., Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease, Molecular Genetics and Metabolism, vol.93, issue.4, pp.398-402, 2008.
DOI : 10.1016/j.ymgme.2007.10.134

S. Kim, L. Chen, W. Yiu, D. Weinstein, and J. Chou, Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia, FEBS Letters, vol.99, issue.20, pp.3833-3838, 2007.
DOI : 10.1016/j.febslet.2007.07.013

S. Reddy, S. Austin, M. Spencer-manzon, D. Koeber, B. Clary et al., Liver transplantation for glycogen storage disease type Ia, Journal of Hepatology, vol.51, issue.3, pp.483-490, 2009.
DOI : 10.1016/j.jhep.2009.05.026

D. Weinstein, C. Roy, M. Fleming, M. Loda, J. Wolfsdorf et al., Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease, Blood, vol.100, issue.10, pp.3776-3781, 2002.
DOI : 10.1182/blood-2002-04-1260

K. Lei, L. Shelly, C. Pan, J. Sidbury, and J. Chou, Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a, Science, vol.262, issue.5133, pp.580-583, 1993.
DOI : 10.1126/science.8211187

G. Van-de-werve, A. Lange, C. Newgard, M. Méchin, Y. Li et al., New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system, European Journal of Biochemistry, vol.42, issue.Suppl. 1, pp.1533-1549, 2000.
DOI : 10.1046/j.1432-1327.2000.01160.x

W. Qui, X. Gu, J. Ye, H. Lsh, Y. Zhang et al., Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients, J Inherit Metab Dis, vol.26, pp.811-812, 2003.

C. Angaroni, R. De-kremer, C. Argarana, A. Paschini-capra, A. Giner-ayala et al., Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability, Molecular Genetics and Metabolism, vol.83, issue.3, pp.276-279, 2004.
DOI : 10.1016/j.ymgme.2004.06.010

C. Ki, S. Han, H. Kim, S. Lee, E. Kim et al., Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia, Clinical Genetics, vol.270, issue.Suppl. 1, pp.487-489, 2004.
DOI : 10.1111/j.1399-0004.2004.00260.x

J. Chou and B. Mansfield, Mutations in the glucose-6-phosphatase-?? (G6PC) gene that cause type Ia glycogen storage disease, Human Mutation, vol.73, issue.7, pp.921-930, 2008.
DOI : 10.1002/humu.20772

E. Barkaoui, W. Cherif, N. Tebib, C. Charfeddine, B. Rhouma et al., Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis, Journal of Inherited Metabolic Disease, vol.30, issue.6, p.989, 2007.
DOI : 10.1007/s10545-007-0737-1

J. Shieh, M. Terzioglu, H. Hiraiwa, J. Marsh, C. Pan et al., The Molecular Basis of Glycogen Storage Disease Type 1a: STRUCTURE AND FUNCTION ANALYSIS OF MUTATIONS IN GLUCOSE-6-PHOSPHATASE, Journal of Biological Chemistry, vol.277, issue.7, pp.5047-5053, 2002.
DOI : 10.1074/jbc.M110486200

T. Nakamura, T. Ozawa, T. Kawasaki, H. Nakamura, and H. Sugimura, Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors, Journal of Gastroenterology and Hepatology, vol.34, issue.12, pp.1402-1408, 2001.
DOI : 10.1016/0304-419X(80)90005-0

B. Weston, J. Lin, J. Muenzer, H. Cameron, R. Arnold et al., Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype, Pediatric Research, vol.33, issue.3, pp.329-334, 2000.
DOI : 10.1203/00006450-200009000-00011

B. Annabi, H. Hiraiwa, B. Mansfield, K. Lei, T. Ubagai et al., The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23, The American Journal of Human Genetics, vol.62, issue.2, pp.400-405, 1998.
DOI : 10.1086/301727

P. Marcolongo, V. Barone, G. Priori, B. Pirola, S. Giglio et al., Structure and mutation analysis of the glycogen storage disease type 1b gene, FEBS Letters, vol.121, issue.2, pp.247-250, 1998.
DOI : 10.1016/S0014-5793(98)01129-6

I. Gerin, M. Veiga-da-cunha, G. Noel, and E. Van-schaftingen, Structure of the gene mutated in glycogen storage disease type Ib, Gene, vol.227, issue.2, pp.189-195, 1999.
DOI : 10.1016/S0378-1119(98)00614-3

P. Trioche, F. Petit, J. Francoual, V. Gajdos, L. Capel et al., Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases, Journal of Inherited Metabolic Disease, vol.27, issue.5, pp.621-623, 2004.
DOI : 10.1023/B:BOLI.0000042987.43395.c6

D. Melis, R. Fulceri, G. Parenti, P. Marcolongo, R. Gatti et al., Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature, European Journal of Pediatrics, vol.77, issue.8, pp.501-508, 2005.
DOI : 10.1007/s00431-005-1657-4

A. Janecke, M. Lindner, M. Erdel, E. Mayatepek, D. Möslinger et al., Mutation analysis in glycogen storage disease type 1 non-a, Human Genetics, vol.107, issue.3, pp.285-289, 2000.
DOI : 10.1007/s004390000371

J. Chou, H. Jun, and B. Mansfield, Neutropenia in type Ib glycogen storage disease, Current Opinion in Hematology, vol.17, issue.1, pp.36-42, 2010.
DOI : 10.1097/MOH.0b013e328331df85

B. Wolf, C. Freehauf, J. Thomas, P. Gordon, C. Greene et al., Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia, Journal of Inherited Metabolic Disease, vol.26, issue.8, pp.805-809, 2003.
DOI : 10.1023/B:BOLI.0000009949.65855.4c

L. Chen, C. Pan, J. Shieh, and J. Chou, Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib, Human Molecular Genetics, vol.11, issue.25, pp.3199-3207, 2002.
DOI : 10.1093/hmg/11.25.3199

I. Maire, C. Baussan, N. Moatti, M. Mathieu, and A. Lemonnier, Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience, Clinical Biochemistry, vol.24, issue.2, pp.169-178, 1991.
DOI : 10.1016/0009-9120(91)90511-C

Y. Qu, J. Abdenur, C. Eng, and R. Desnick, MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia, Prenatal Diagnosis, vol.11, issue.4, pp.333-336, 1996.
DOI : 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G

L. Wong, Prenatal diagnosis of glycogen storage disease type Ia by direct mutation detection, pp.105-108, 1996.

C. Lam, S. Sin, E. Lau, Y. Lam, P. Poon et al., Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography, Prenatal Diagnosis, vol.7, issue.9, pp.765-768, 2000.
DOI : 10.1002/1097-0223(200009)20:9<765::AID-PD893>3.0.CO;2-S

D. Bali, Y. Chen, R. Pagon, T. Bird, C. Dolan et al., Glycogen storage disease type I, Genereviews (Internet) Seattle, 1993.

J. Rake, G. Visser, P. Labrune, J. Leonard, K. Ullrich et al., Guidelines for management of glycogen storage disease type I???European study on glycogen storage disease type I (ESGSD I), European Journal of Pediatrics, vol.20, issue.Suppl 1, pp.161-112, 2002.
DOI : 10.1007/BF02680007

D. Weinstein and J. Wolfsdorf, Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease, Eur J Pediatr, pp.161-196, 2002.

K. Bhattacharya, R. Orton, H. Mundy, D. Morley, M. Champion et al., A novel starch for the treatment of glycogen storage diseases, Journal of Inherited Metabolic Disease, vol.29, issue.Suppl 1, pp.350-357, 2007.
DOI : 10.1007/s10545-007-0479-0

C. Correia, K. Bhattacharya, P. Lee, J. Shuster, D. Theriaque et al., Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib, Am J Clin Nutr, vol.88, pp.1272-1276, 2008.

A. Saunders, H. Feldman, C. Correia, and D. Weinstein, Clinical evaluation of a portable lactate meter in type I glycogen storage disease, Journal of Inherited Metabolic Disease, vol.4, issue.Supplement 1, pp.695-701, 2005.
DOI : 10.1007/s10545-005-0090-1

G. Visser, J. Rake, P. Labrune, J. Leonard, S. Moses 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, pp.161-83, 2002.

J. Donadieu, B. Beaupain, F. Rety-jacob, and R. Nove-josserand, Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim, Haematologica, vol.94, issue.8, pp.1175-1177, 2009.
DOI : 10.3324/haematol.2008.005330

B. Draper, J. Robbins, and G. Stricklin, Bullous Sweet's syndrome in congenital neutropenia: Association with pegfilgrastim, Journal of the American Academy of Dermatology, vol.52, issue.5, pp.901-905, 2005.
DOI : 10.1016/j.jaad.2004.12.028

L. Franco, V. Krishnamurthy, D. Bali, D. Weinstein, P. Arn et al., Hepatocellular carcinoma in glycogen storage disease type Ia: A case series, Journal of Inherited Metabolic Disease, vol.28, issue.2, pp.153-162, 2005.
DOI : 10.1007/s10545-005-7500-2

S. Reddy, P. Kishnani, J. Sullivan, D. Koeberl, D. Desai et al., Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia, Journal of Hepatology, vol.47, issue.5, pp.658-663, 2007.
DOI : 10.1016/j.jhep.2007.05.012

P. Labrune, Glycogen storage disease type I: indications for liver and/or kidney transplantation, European Journal of Pediatrics, vol.137, issue.Suppl 1, pp.53-55, 2002.
DOI : 10.1007/BF02679995

M. Adachi, M. Shinkai, Y. Ohhama, K. Tachibana, T. Kuratsuji et al., Improved neutrophil function in a glycogen storage disease type Ib patient after liver transplantation, Eur J Pediatr, vol.63, pp.202-206, 2004.

M. Kasahara, R. Horikawa, S. Sakamoto, T. Shigeta, H. Tanaka et al., Living donor liver transplantation for glycogen storage disease type Ib, Liver Transplantation, vol.111, issue.12, pp.1867-1871, 2009.
DOI : 10.1002/lt.21929

S. Iyer, C. Chen, C. Wang, S. Wang, A. Concejero et al., Long-term results of living donor liver transplantation for glycogen storage disorders in children, Liver Transplantation, vol.150, issue.6, pp.848-852, 2007.
DOI : 10.1002/lt.21151

M. Davis and D. Weinstein, Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure, Pediatric Transplantation, vol.63, issue.Suppl. 1, pp.137-145, 2008.
DOI : 10.1111/j.1399-3046.2007.00803.x

M. Muraca and A. Burlina, Liver and liver cell transplantation for glycogen storage disease type IA, Acta Gastroenterol Belg, vol.68, pp.469-472, 2005.

K. Lee, J. Lee, S. Shin, S. Kim, J. Joh et al., Hepatocyte Transplantation for Glycogen Storage Disease Type Ib, Cell Transplantation, vol.16, issue.6, pp.629-637, 2007.
DOI : 10.3727/000000007783465019

G. Pierre, G. Chakupurakal, P. Mckiernan, C. Hendriksz, S. Lawson et al., Bone Marrow Transplantation in Glycogen Storage Disease Type 1b, The Journal of Pediatrics, vol.152, issue.2, pp.286-288, 2008.
DOI : 10.1016/j.jpeds.2007.09.031

F. Panaro, E. Andorno, G. Basile, N. Morelli, G. Bottino et al., Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease), Transplantation Proceedings, vol.36, issue.5, pp.1483-1484, 2004.
DOI : 10.1016/j.transproceed.2004.05.070

A. Martin, M. Bartels, S. Schreiber, P. Buehrdel, J. Hauss et al., Successful Staged Kidney and Liver Transplantation for Glycogen Storage Disease Type Ib: A Case Report, Transplantation Proceedings, vol.38, issue.10, pp.3615-3619, 2006.
DOI : 10.1016/j.transproceed.2006.10.160

D. Koeberl, P. Kishnani, D. Bali, and Y. Chen, Emerging therapies for glycogen storage disease type I, Trends in Endocrinology & Metabolism, vol.20, issue.5, pp.252-258, 2009.
DOI : 10.1016/j.tem.2009.02.003

R. F. Mithieux and A. Gautier-stein, A Novel Role for Glucose 6-Phosphatase in the Small Intestine in the Control of Glucose Homeostasis, Journal of Biological Chemistry, vol.279, issue.43, pp.44231-44234, 2004.
DOI : 10.1074/jbc.R400011200

E. Mutel, A. Abdul-wahed, N. Ramamonjisoa, A. Stefanutti, I. Houberdon et al., Targeted deletion of the liver glucose-6-phosphatase mimics glycogen storage disease type Ia including development of multiple adenomas, J Hepatol, 2010.

W. Yiu, Y. Lee, W. Peng, C. Pan, P. Mead et al., Complete Normalization of Hepatic G6PC Deficiency in Murine Glycogen Storage Disease Type Ia Using Gene Therapy, Molecular Therapy, vol.18, issue.6, pp.1076-1084, 2010.
DOI : 10.1038/mt.2010.64

D. Weinstein, C. Correia, T. Conlon, A. Specht, J. Verstegen et al., AAV-mediated correction of a canine model of glycogen storage disease type Ia, pp.903-910, 2010.

J. Chou and B. Mansfield, Gene Therapy for Type I Glycogen Storage Diseases, Current Gene Therapy, vol.7, issue.2, pp.79-88, 2007.
DOI : 10.2174/156652307780363152