The neonatal form of biotin-responsive multiple carboxylase deficiency
Identifieur interne : 00F714 ( Main/Merge ); précédent : 00F713; suivant : 00F715The neonatal form of biotin-responsive multiple carboxylase deficiency
Auteurs : S. Packman [États-Unis] ; L. Sweetman [États-Unis] ; H. Baker [États-Unis] ; S. Wall [États-Unis]Source :
- The Journal of Pediatrics [ 0022-3476 ] ; 1981.
English descriptors
- Teeft :
- Anal biochem, Biotin, Carboxylase, Clin chim acta, Clinical course, Clinical heterogeneity, Deficient activity, Fetal calf serum, Laboratory observations, Mitochondrial carboxylases, Multiple carboxylase deficiency, Neonatal form, Normal range, Organic acid pattern, Organic aciduria, Pediatrics september, Pyruvate carboxylase, Relative biotin deprivation, Separate determinations, Shape discrimination, Sweetman, Urine.
Url:
DOI: 10.1016/S0022-3476(81)80333-2
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ISTEX:353B5A82DDF6B1506EF7586EF34D1AF7122B646BLe document en format XML
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<term>Clin chim acta</term>
<term>Clinical course</term>
<term>Clinical heterogeneity</term>
<term>Deficient activity</term>
<term>Fetal calf serum</term>
<term>Laboratory observations</term>
<term>Mitochondrial carboxylases</term>
<term>Multiple carboxylase deficiency</term>
<term>Neonatal form</term>
<term>Normal range</term>
<term>Organic acid pattern</term>
<term>Organic aciduria</term>
<term>Pediatrics september</term>
<term>Pyruvate carboxylase</term>
<term>Relative biotin deprivation</term>
<term>Separate determinations</term>
<term>Shape discrimination</term>
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