The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

Journal of Inherited Metabolic Disease

Volumn 17, Issue 1, 1994, Pages 142-145

  van Gennip, A H ^a   Abeling, N G G M ^a   Stroomer, A E M ^a   Overmars, H ^a   Bakker, H D ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; CYSTEINE DERIVATIVE; CYSTINE; ENZYME COFACTOR; HYPOXANTHINE; MOLYBDENUM; MOLYBDENUM COMPLEX; PURINE DERIVATIVE; SULFATE; SULFITE; SULFITE OXIDASE; SULFUR; TAURINE; THIOSULFATE; UNCLASSIFIED DRUG; URIC ACID; XANTHINE; XANTHINE DEHYDROGENASE;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LIVER; METABOLITE; MINERAL DEFICIENCY; NORMAL HUMAN; PRESCHOOL CHILD; URINE LEVEL;

AMINO ACIDS; CASE REPORT; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMAN; INFANT, NEWBORN; METAL METABOLISM, INBORN ERRORS; METALLOPROTEINS; PTERIDINES; PURINES; SULFATES;

EID: 0028293093     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF00735420     Document Type: Article

References (5)

1. Molybdenum deficiency can mimic postanoxic encephalopathy
2. Molybdenum cofactor deficiency
3. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions
4. Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC
5. The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid