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03575nam a22004215i 4500 |
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160908s2016 gw | s |||| 0|eng d |
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|a 9783662532782
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| 024 |
7 |
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|a 10.1007/978-3-662-53278-2
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
1 |
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|a JIMD Reports, Volume 29 /
|c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
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| 250 |
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|a 1st ed. 2016.
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| 260 |
# |
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2016.
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| 300 |
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|a VI, 113 p. 34 illus., 14 illus. in color. :
|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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| 490 |
1 |
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|a JIMD Reports,
|v 29
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| 505 |
0 |
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|a LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.
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| 650 |
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0 |
|a Human genetics.
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| 650 |
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0 |
|a Metabolic diseases.
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| 650 |
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0 |
|a Pediatrics.
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| 650 |
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0 |
|a Molecular biology.
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| 650 |
1 |
4 |
|a Human Genetics.
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| 650 |
2 |
4 |
|a Metabolic Diseases.
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| 650 |
2 |
4 |
|a Pediatrics.
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| 650 |
2 |
4 |
|a Molecular Medicine.
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| 700 |
1 |
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|a Morava, Eva.
|e editor.
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| 700 |
1 |
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|a Baumgartner, Matthias.
|e editor.
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| 700 |
1 |
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|a Patterson, Marc.
|e editor.
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| 700 |
1 |
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|a Rahman, Shamima.
|e editor.
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| 700 |
1 |
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|a Zschocke, Johannes.
|e editor.
|
| 700 |
1 |
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|a Peters, Verena.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
|
| 773 |
0 |
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|t Springer eBooks
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| 900 |
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|a Libro descargado a ALEPH en bloque (proveniente de proveedor)
|