Laboratory Detection of Metabolic Disease

Author:

Applegarth D.A.,Dimmick J.E.,Toone J.R.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Organic Acids in Man;Chalmers,1982

2. Mitochondrial myopathies;DiMauro;Ann Neurol,1985

3. Dimmick JE, Applegarth DA: Inborn metabolic diseases of the perinatal infant. In Singer D, Wigglesworth J (eds): Textbook of Fetal and Perinatal Pathology. Blackwell Scientific Publications, in press.

4. Rapid prenatal diagnosis of glycogen storage disease type II by electron microscopy of uncultured amniotic fluid cells;Hug;N Engl J Med,1984

5. Glycogen storage disease, types I to X;McAdams;Hum Pathol,1974

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1. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia;Orphanet Journal of Rare Diseases;2016-09-15

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

3. Inborn errors of metabolism;Fanaroff and Martin's Neonatal–Perinatal Medicine;2011

4. Biochemical investigations on post-mortem specimens;Paediatric Forensic Medicine and Pathology;2008-11-28

5. Inborn errors of metabolism: the flux from Mendelian to complex diseases;Nature Reviews Genetics;2006-06

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