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The Resource JIMD Reports, Volume 36, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

JIMD Reports, Volume 36, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

Label
JIMD Reports, Volume 36
Title
JIMD Reports, Volume 36
Statement of responsibility
edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
Contributor
Editor
Subject
Language
eng
Summary
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
Member of
Is part of
Image bit depth
0
Literary form
non fiction
Series statement
JIMD Reports,
Series volume
36
JIMD Reports, Volume 36, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)
Label
JIMD Reports, Volume 36, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)
Link
http://libproxy.rpi.edu/login?url=http://dx.doi.org/10.1007/978-3-662-56138-6
Publication
Related Contributor
Related Location
Related Agents
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Antecedent source
mixed
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
not applicable
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Contents
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
http://library.link/vocab/cover_art
https://contentcafe2.btol.com/ContentCafe/Jacket.aspx?Return=1&Type=S&Value=9783662561386&userID=ebsco-test&password=ebsco-test
Dimensions
unknown
http://library.link/vocab/discovery_link
{'f': 'http://opac.lib.rpi.edu/record=b4380154'}
Extent
VI, 120 p. 20 illus., 11 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783662561386
Level of compression
uncompressed
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other physical details
online resource.
Quality assurance targets
absent
Reformatting quality
access
Specific material designation
remote

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