An approach to the diagnosis of inherited metabolic disease.
Champion
M P
MP
Department of Inherited Metabolic Disease, Level 6, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. michael.champion@gstt.nhs.uk
D000138:Acidosis / Q000209:etiology; D019985:Benchmarking; D001928:Brain Diseases, Metabolic / Q000209:etiology; D003937:Diagnosis, Differential; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D015994:Incidence; D007231:Infant, Newborn; D017093:Liver Failure / Q000209:etiology; D008487:Medical History Taking; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D015997:Neonatal Screening / Q000379:methods*; D010372:Pediatrics / Q000379:methods*; D010808:Physical Examination; D035583:Rare Diseases; D012640:Seizures / Q000209:etiology; D053719:Tandem Mass Spectrometry; D013997:Time Factors