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170713s2017 gw | s |||| 0|eng d |
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|a 9783662555866
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| 024 |
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|a 10.1007/978-3-662-55586-6
|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 34 /
|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. 2017.
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| 260 |
# |
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2017.
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| 300 |
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|a VI, 115 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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| 490 |
1 |
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|a JIMD Reports,
|v 34
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| 505 |
0 |
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|a Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype -- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs -- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014 -- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations -- Phenotype and Genotype Expansion -- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review -- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen -- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients -- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion Reactions to Enzyme Replacement Therapies -- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder -- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria -- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables -- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis -- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
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| 650 |
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|a Human genetics.
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| 650 |
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|a Metabolic diseases.
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| 650 |
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|a Pediatrics.
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| 650 |
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|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.
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| 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)
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| 773 |
0 |
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|t Springer eBooks
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