Obstetrics, gynecology and reproductive medicine guidelines

Neonatology

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Inborn errors of metabolism

Canada

• Perinatal Services BC
  • Newborn Screening: Phenylketonuria (PKU), Congenital Hypothyroidism (CH), Galactosemia, Medium Chain Acyl-Coa Dehydrogenase Deficiency (MCAD) [2007]

International

• Cochrane Library
  • Newborn screening for homocystinuria

New Zealand

• Auckland District Health Board
  • Metabolic Screening [2006]
  • Metabolic Disease - Investigation and Treatment [2001]

United Kingdom

• Royal College of Obstetricians and Gynaecologists
  • Keeping newborn babies with a family history of MCADD safe in the first hours and days of life [2011]

United States of America

• American Association for Clinical Chemistry
  • Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry [2009]

• American College of Medical Genetics
  • Pompe Disease Diagnosis and Management Guideline [2006]

• National Academy of Clinical Biochemistry
  • Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry [2009]

• National Guideline Clearinghouse
  • Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. National Academy of Clinical Biochemistry [2009]
  • Screening for phenylketonuria (PKU): U.S. Preventive Services Task Force reaffirmation recommendation statement [2008]

• U.S. Preventive Services Task Force
  • Screening: Phenylketonuria [2008]

Articles in journals

• Clinical Chemistry
  • Newborn Screening by Tandem Mass Spectrometry: Gaining Experience [2001]

• Pediatrics
  • Lysosomal Storage Disorders in the Newborn [2009]
  • Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations [2007]

{Related topics}

• Guidelines
  • Newborn
  • Neonatal screening