Glycogen storage disease (type I) presenting in the neonatal period.

Author:

Hufton B R,Wharton B A

Publisher

BMJ

Subject

Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Liver glycogen disease. Report of a case of hyperuricaemia, renal calculi, and no demonstrable enzyme defect;N, Briggs J.; C, Haworth J.;Am J Med,1964

2. A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system;Igarashi, Y.; Otomo, H.; Narisawa, K.; Tada, K.;J Inherited Metab Dis,1979

3. Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro;A, Chalmers R.; E, Ryman B.; E, Watts R.W.;Acta Paediatr Scand,1978

4. Successful treatment of severe type I glycogen storage disease with neonatal presentation by nocturnal intragastric feeding;Perlman, M.; Aker, M.; E, Slonim A.;J Pediatr,1979

5. A screening method for liver glycogen diseases;Fernandes, J.; Huijing, F.; H, Van De Kamer J.;Arch Dis Child

Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A novel mutation in a newborn baby leading to glycogen storage disease type Ia;Balkan Journal of Medical Genetics;2018-12-01

2. Neonatal Glycogen Storage Disease Ia;Pediatrics & Neonatology;2015-02

3. Pediatric Metabolic Diseases;Forensic Pathology of Infancy and Childhood;2014

4. A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities;Acta Paediatrica;2009-10

5. Inborn Errors of Carbohydrate Metabolism;Principles of Perinatal-Neonatal Metabolism;1991

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