Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey-Reference-Cited by-同舟云学术

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

Published:1989-03 Issue:S1 Volume:12 Page:25-41
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Saudubray J. M.,Ogier H.,Bonnefont J. P.,Munnich A.,Lombes A.,Hervé F.,Mitchel G.,Poll Thé B.,Specola N.,Parvy P.,Bardet J.,Rabier D.,Coudé M.,Charpentier C.,Frézal J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799284

Reference38 articles.

1. Aleck, K. A. and Shapiro, L. J. Genetic metabolic considerations in the sick neonate.Pediatr. Clin. N. Am. 25 (1978) 431–451

2. Amendt, B. A., Greene, C., Sweetman, L., Cloherty, J., Shih, V., Moon, A., Teel, L. and Rhead, W. J. Short chain acyl-CoA dehydrogenase deficiency. Clinical and biochemical studies in two patients.J. Clin. Invest. 79 (1987) 1303–1309

3. Ampola, M. G. (Ed.): Early detection and management of inborn errors.Clin. Perinatal. 3 (1976) 1–18

4. Ballard, R. A., Vinocour, B., Reynolds, J. W., Wennburg, R. P., Merritt, A., Sweetman, L. and Nyhan, W. L. Transient hyperammonemia of the preterm infant.N. Engl. J. Med. 299 (1978) 920–925

5. Bankier, A., Turner, M. and Hopkins, I. J. Pyridoxine dependent seizures. A wider clinical spectrum.Arch. Dis. Child. 58 (1983) 415–418

Cited by 46 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. Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study;Saudi Journal of Medicine & Medical Sciences;2024-01

2. Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism;European Journal of Pediatrics;2019-03-20

3. Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia;Nephrology;2019-02-27

4. Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: a 5-year retrospective study;ASIAN BIOMED;2017

5. Urgencias metabólicas neonatales;EMC - Pediatría;2016-03