Glycogen storage disease type I: clinical and laboratory profile.
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L. Schuler‐Faccini | Tatiéle Nalin | L. Refosco | C. D. Souza | I. Schwartz | S. Vieira | M. Epifanio | B. Santos
[1] S. O'Dell,et al. Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. , 2013, Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.
[2] F. de Boer,et al. Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? , 2013, Molecular genetics and metabolism.
[3] D. Freedman. Determination of body size measures and blood pressure levels among children. , 2013, Jornal de pediatria.
[4] J. P. Heinzmann-Filho,et al. Bone mineral density, pulmonary function, chronological age, and age at diagnosis in children and adolescents with cystic fibrosis. , 2013, Jornal de pediatria.
[5] J. Shieh,et al. Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a. , 2012, Gene.
[6] J. Lavine,et al. Liver Biopsy in Modern Clinical Practice: A Pediatric Point-of-View , 2012, Advances in anatomic pathology.
[7] A. Hubert-Buron,et al. Glucose-6-phosphatase deficiency , 2011, Orphanet journal of rare diseases.
[8] R. Pandey,et al. Normal values of liver and spleen size by ultrasonography in Indian children , 2010, Indian pediatrics.
[9] A. Colao,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. , 2010, The Journal of pediatrics.
[10] D. Bali,et al. Emerging therapies for glycogen storage disease type I , 2009, Trends in Endocrinology & Metabolism.
[11] S. Silverman,et al. International Society for Clinical Densitometry 2007 Adult and Pediatric Official Positions. , 2008, Bone.
[12] D. Theriaque,et al. Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. , 2008, The American journal of clinical nutrition.
[13] S. Moses. Historical highlights and unsolved problems in glycogen storage disease type 1 , 2007, European Journal of Pediatrics.
[14] J. Shieh,et al. A Glucose-6-phosphate Hydrolase, Widely Expressed Outside the Liver, Can Explain Age-dependent Resolution of Hypoglycemia in Glycogen Storage Disease Type Ia* , 2003, Journal of Biological Chemistry.
[15] E. Karabulut,et al. Histologic Features of the Liver in Type Ia Glycogen Storage Disease: Comparative Study between Different Age Groups and Consecutive Biopsies , 2002, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
[16] F. Kuipers,et al. Disturbed lipid metabolism in glycogen storage disease type 1 , 2002, European Journal of Pediatrics.
[17] J. Leonard,et al. Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) , 2002, European Journal of Pediatrics.
[18] D. A. Weinstein,et al. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease , 2002, European Journal of Pediatrics.
[19] T. Matsumoto,et al. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. , 2001, Inflammatory bowel diseases.
[20] R. Giugliani,et al. Glycogen storage disease type Ia: molecular study in Brazilian patients , 2001, Journal of Human Genetics.
[21] M. Polymeropoulos,et al. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. , 1998, American journal of human genetics.
[22] S. Moses. Pathophysiology and dietary treatment of the glycogen storage diseases. , 1990, Journal of pediatric gastroenterology and nutrition.