An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Annals of Indian Academy of Neurology

Volumn 11, Issue 2, 2008, Pages 68-81

  Christopher, Rita ^a   Sankaran, Bindu ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Biochemical tests; Diagnosis; Inborn errors

Indexed keywords

ACYLCARNITINE; AMINO ACID; AMMONIA; CARBOXYLIC ACID; GLUCOSE; GLYCOSAMINOGLYCAN; KETONE; LACTIC ACID; OLIGOSACCHARIDE; PIPECOLIC ACID; PLASMALOGEN; PYRUVIC ACID; VERY LONG CHAIN FATTY ACID;

ACID BASE BALANCE; ACIDURIA; ATAXIA; BLOOD CHEMISTRY; BLOOD GAS; BRAIN DISEASE; EXTRAPYRAMIDAL SYNDROME; FATTY ACID OXIDATION; GENETIC COUNSELING; GLUCOSE BLOOD LEVEL; HUMAN; HYPERGLYCINEMIA; INBORN ERROR OF METABOLISM; LABORATORY TEST; LACTATE BLOOD LEVEL; LONG TERM CARE; MAPLE SYRUP URINE DISEASE; MENTAL DISEASE; METABOLIC DISORDER; MYOPATHY; NEUROCHEMISTRY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICIAN; PROGNOSIS; REVIEW; SCREENING TEST; TANDEM MASS SPECTROMETRY;

EID: 47849111329     PISSN: 09722327     EISSN: 19983549     Source Type: Journal    
DOI: 10.4103/0972-2327.41873     Document Type: Review

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