Inborn Errors of Metabolism

Author:

Brunetti-Pierri Nicola,Parenti Giancarlo,Andria Generoso

Publisher

Springer Milan

Reference70 articles.

1. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105: e10

2. Sanderson S, Green A, Preece MA, Burton H (2006) The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child 91: 896–899

3. Saudubray JM, Charpentier C (2001) Clinical phenotypes: Diagnosis/ Algorithms. In: Scriver CR, Beaudet AL, Sly WS et al (eds) The metabolic & molecular bases of inherited disease. McGraw- Hill, New York

4. von Kleist-Retzow JC, Cormier-Daire V, Viot G et al (2003) Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 143: 208–212

5. North KN, Hoppel CL, De Girolami U et al (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127: 414–420

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