The measurement of urinary δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

Journal of Inherited Metabolic Disease

Volumn 35, Issue 5, 2012, Pages 909-916

  Struys, Eduard A ^a   Bok, Levinus A ^b   Emal, Dina ^a   Houterman, Saskia ^b   Willemsen, Michel A ^c   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MÁXIMA MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA AMINOADIPIC SEMIALDEHYDE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; CARBOXYLIC ACID DERIVATIVE; CREATININE; DELTA1 PIPERIDEINE 6 CARBOXYLATE; FORMIC ACID; METHANOL; OXOAMINO ACID; PIPECOLIC ACID; UNCLASSIFIED DRUG; WATER;

ANTIQUITIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DILUTION; ENZYME DEFICIENCY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PYRIDOXINE DEPENDENT SEIZURE; QUANTITATIVE ANALYSIS; REFERENCE VALUE; RETROSPECTIVE STUDY; SEIZURE; STANDARD; TANDEM MASS SPECTROMETRY; URINALYSIS; URINE LEVEL;

2-AMINOADIPIC ACID; ALDEHYDE DEHYDROGENASE; DIET; EPILEPSY; HUMANS; LYSINE; PICOLINIC ACIDS;

EID: 84866734915     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9443-0     Document Type: Article

References (12)

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