An approach to the diagnosis of inherited metabolic disease.

Champion, M P

Champion, M P.

Affiliation

Champion MP; Department of Inherited Metabolic Disease, Level 6, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. michael.champion@gstt.nhs.uk

Arch Dis Child Educ Pract Ed ; 95(2): 40-6, 2010 Apr.

Article in En | MEDLINE | ID: mdl-20351150

Subject(s)

Metabolism, Inborn Errors/diagnosis; Neonatal Screening/methods; Pediatrics/methods; Acidosis/etiology; Benchmarking; Brain Diseases, Metabolic/etiology; Diagnosis, Differential; Growth Disorders/etiology; Humans; Hypoglycemia/etiology; Incidence; Infant, Newborn; Liver Failure/etiology; Medical History Taking; Metabolism, Inborn Errors/epidemiology; Metabolism, Inborn Errors/genetics; Metabolism, Inborn Errors/metabolism; Physical Examination; Rare Diseases; Seizures/etiology; Tandem Mass Spectrometry; Time Factors

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pediatrics / Neonatal Screening / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Prognostic_studies Limits: Humans / Newborn Language: En Journal: Arch Dis Child Educ Pract Ed Journal subject: PEDIATRIA Year: 2010 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

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