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02255nam a22003495i 4500 |
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978-1-4419-9062-4 |
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20190619111909.0 |
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cr nn 008mamaa |
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121227s2004 xxu| s |||| 0|eng d |
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|a 9781441990624
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7 |
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|a 10.1007/978-1-4419-9062-4
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 100 |
1 |
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|a Snodgrass, Philip J.
|e author.
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| 245 |
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|a Chemical Probes in Biology
|b Science at the Interface of Chemistry, Biology and Medicine /
|c by Philip J. Snodgrass.
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| 250 |
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|a 1st ed. 2004.
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| 260 |
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|a New York, NY :
|b Springer US :
|b Imprint: Springer,
|c 2004.
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| 300 |
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|a XVII, 243 p.
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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|a 1 Gene Structure, Regulation and Function -- 2 Synthesis, Processing and Assembly -- 3 Molecular and Kinetic Characteristics -- 4 Active Site and Other Essential Residues -- 5 Molecular Pathology of OTC Deficiency -- 6 Animal Models of OTC Deficiency and Their Gene Therapy -- Sparse-fur mutant mouse -- Sparse-furash mutant mouse -- Gene therapy of mutant mice -- 7 Clinical and Laboratory Findings in OTC Deficiency -- OTC deficiency in females -- OTC deficiency in males -- Plasma amino acid levels in OTC deficiency -- Plasma amino acid levels from the literature -- Case series of OTC deficiency from the literature -- Symptoms of OTC deficiency precipitated by valproic acid -- Rett syndrome and hyperammonemia -- 8 Diagnosis and Treatment of OTC Deficiency -- Diagnosis -- Loading tests -- Neuroimaging, EEG and pathology in liver and brain -- Treatment -- Gene replacement therapy -- 9 Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals -- Development of fetal and neonatal OTC and urea cycle enzymes -- References -- Biographical Note.
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| 650 |
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|a Biochemistry.
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| 650 |
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|a Human genetics.
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| 650 |
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|a Internal medicine.
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| 650 |
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|a Pediatrics.
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4 |
|a Biochemistry, general.
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| 650 |
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4 |
|a Human Genetics.
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| 650 |
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4 |
|a Internal Medicine.
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| 650 |
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4 |
|a Pediatrics.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
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|t Springer eBooks
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| 856 |
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|u https://doi.org/10.1007/978-1-4419-9062-4
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