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03287nam a22004215i 4500 |
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978-3-662-56138-6 |
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20191024172350.0 |
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cr nn 008mamaa |
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171109s2017 gw | s |||| 0|eng d |
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|a 9783662561386
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|a 10.1007/978-3-662-56138-6
|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 |
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|a JIMD Reports, Volume 36
|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, 120 p. 20 illus., 11 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 36
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| 505 |
0 |
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|a False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency -- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach -- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C -- Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS -- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? -- The Spectrum of Niemann-Pick Type C Disease in Greece -- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? -- A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica -- Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency -- Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1 -- Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1 -- Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency -- An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom -- Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology -- Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
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| 650 |
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0 |
|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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| 856 |
4 |
0 |
|u https://doi.org/10.1007/978-3-662-56138-6
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