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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
3-Methylcrotonyl-CoA: carboxylase (EC; MCC) deficiency is an inborn error of the leucine degradation pathway (MIM *210200) characterized by increased urinary excretion of 3-hydroxyisovalericExpand
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  • Open Access
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of biotin to inactive apocarboxylases yielding active carboxylases.Expand
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Affinity chromatography of coagulation factors II, VIII, IX and X on matrix-bound phospholipid vesicles.
Abstract Phospholipid vesicles containing phosphatidylserine and phosphatidylethanolamine were coupled to cyanogenbromide-activated agarose gels. The gels obtained showed phospholipid-relatedExpand
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Studies on a monoclonal antibody to human factor viii coagulant activity, with a description of a facile two-site factor VIII coagulant antigen assay.
IgG was purified from the ascites tumor fluid obtained from mice injected with a monoclonal cell line secreting antibody that inhibited VIII:C. With a modified Bethesda assay method (18 hr, 4 degreesExpand
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Prostaglandin E2-9-ketoreductase of rat testis.
Abstract Prostaglandin E 2 -9-ketoreductase, an enzyme which catalyzes the conversion of PGE 2 to PGE 2α , occurs in both the cytoplasmic and microsomal fractions of rat testis. The cytosolic enzymeExpand
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A new quantitative assay for glycosaminoglycans.
  • L. P. Thuy, W. Nyhan
  • Chemistry, Medicine
  • Clinica chimica acta; international journal of…
  • 16 November 1992
A direct dye-binding technique has been developed to measure total glycosaminoglycans in urine. Fifty or 100 microliters of urine was mixed with a solution of Azure A (10 mg/l) and Azure B (10 mg/l)Expand
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Multiple carboxylase deficiency due to deficiency of biotinidase.
A patient with biotinidase deficiency was studied in whom the first admission to hospital for acidosis occurred at 5 years of age. Sensorineural abnormalities of the optic and auditory nervesExpand
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A new case of holocarboxylase synthetase deficiency
A new case of holocarboxylase synthetase deficiency is reported in a spanish new-born baby. Diagnosis and enzymatic explorations are reported
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