Uneingeschränkter Zugang

A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome


Zitieren

Chou JY, Kim GY, Cho JH. Recent development and gene therapy for glycogen storage disease type Ia. Liver Res. 2017;1(3): 174-180.Chou JY Kim GY Cho JH Recent development and gene therapy for glycogen storage disease type Ia Liver Res 20171 3 174 18010.1016/j.livres.2017.12.001Search in Google Scholar

Shah MH, Roshan R, Desai R, Kadam SS. Neonatal hyperlipidemia with pancreatitis: novel gene mutation of lipoprotein lipase. J Postgrad Med. 2018; 64(4): 247-249.Shah MH Roshan R Desai R Kadam SS Neonatal hyperlipidemia with pancreatitis: novel gene mutation of lipoprotein lipase J Postgrad Med 2018 64 4 247 24910.4103/jpgm.JPGM_731_17Search in Google Scholar

Gao M, Yang C, Wang X, et al. ApoC2 deficiency elicits severe hypertriglyceridemia and spontaneous atherosclerosis: A rodent model rescued from neonatal death. Metabolism. 2020; 109: 154296.Gao M Yang C Wang X et al ApoC2 deficiency elicits severe hypertriglyceridemia and spontaneous atherosclerosis: A rodent model rescued from neonatal death Metabolism 2020 109 15429610.1016/j.metabol.2020.154296Search in Google Scholar

Siafakas CG, Brown MR, Miller TL. Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. J Pediatr Gastroenterol Nutr. 1999; 29(1): 95-98.Siafakas CG Brown MR Miller TL Neonatal pancreatitis associated with familial lipoprotein lipase deficiency J Pediatr Gastroenterol Nutr 1999 29 1 95 9810.1097/00005176-199907000-00023Search in Google Scholar

Yıldız Y, Uysal Yazıcı M, Çınar HG, Özbay Hoşnut F, Kurt Çolak F, Kılıç M. Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant. Pancreatology. 2020; 20(4): 644-646.Yıldız Y Uysal Yazıcı M Çınar HG Özbay Hoşnut F Kurt Çolak F Kılıç M Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant Pancreatology 2020 20 4 644 64610.1016/j.pan.2020.03.008Search in Google Scholar

Chou JY, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat. 2008; 29(7): 921-930.Chou JY Mansfield BC Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease Hum Mutat 2008 29 7 921 93010.1002/humu.20772Search in Google Scholar

Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, Chen YT, Crigler JF Jr, Ferreira P, Haworth JC, Herman GE, Issenman RM, Keating JP, Linde R, Roe TF, Senior B, Wolfsdorf JI: Glycogen storage disease in adults. Ann Intern Med. 1994; 120(4): 218-226.Talente GM Coleman RA Alter C Baker L Brown BI Cannon RA Chen YT Crigler JF Jr Ferreira P Haworth JC Herman GE Issenman RM Keating JP Linde R Roe TF Senior B Wolfsdorf JI Glycogen storage disease in adults Ann Intern Med 1994 120 4 218 22610.7326/0003-4819-120-3-199402010-00008Search in Google Scholar

Bandsma RH, Prinsen BH, van Der Velden Mde S, Rake JP, Boer T, Smit GP, Reijngoud DJ, Kuipers F: Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density li-poprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res. 2008; 63(6): 702-707.Bandsma RH Prinsen BH van Der Velden Mde S Rake JP Boer T Smit GP Reijngoud DJ Kuipers F Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density li-poprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a Pediatr Res 2008 63 6 702 70710.1203/PDR.0b013e31816c9013Search in Google Scholar

Carvalho PMS, Silva NJM, Dias PGD, Porto JFC, Santos LC, Costa JMN. Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. J Diabetes Metab Disord. 2013; 12(1): 25.Carvalho PMS Silva NJM Dias PGD Porto JFC Santos LC Costa JMN Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases J Diabetes Metab Disord 2013 12 1 2510.1186/2251-6581-12-25Search in Google Scholar

Koeberl DD, Kishnani PS, Bali D, Chen Y-T. Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab. 2009; 20(5): 252-258.Koeberl DD Kishnani PS Bali D Chen Y-T Emerging therapies for glycogen storage disease type I Trends Endocrinol Metab 2009 20 5 252 25810.1016/j.tem.2009.02.003Search in Google Scholar

eISSN:
1311-0160
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
2 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Vorklinische Medizin, Grundlagenmedizin, andere