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Jose Ernesto Antoni. [electronic resource]

By:

Drajer, Saul

Contributor(s):

de Los Santos, Santiago

Producer: 20090929Description: 730-1 p. digitalISSN:

1873-1570

Subject(s):

Online resources:

Available from publisher's website

In: Resuscitation vol. 80

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Publication Type: Biography; Historical Article; Journal Article; Portrait

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2 Effect of carbamyl phosphate on stability of some enzymes of the urea cycle; high sensitivity of glutamate dehydrogenase.
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3 beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid.
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4 On the mechanism of carbamoylphosphate synthetase.
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7 Exclusion of cyanate as intermediate in ornithine transcarbamoylase action.
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8 A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
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9 [Type C Niemann-Pick disease].
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10 An activator protein of oligosaccharide sialidase.
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11 Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
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12 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
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13 Hunter disease in the Spanish population: molecular analysis in 31 families.
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14 A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.
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18 Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
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19 Imaging features of type-B Niemann-Pick disease.
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