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The Resource JIMD Reports, Volume 31, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

JIMD Reports, Volume 31, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

Label
JIMD Reports, Volume 31
Title
JIMD Reports, Volume 31
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
31
JIMD Reports, Volume 31, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)
Label
JIMD Reports, Volume 31, 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/10.1007/978-3-662-54119-7
Publication
Related Contributor
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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
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents -- Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency -- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders -- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders -- Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency -- Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots -- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency -- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels -- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients -- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency -- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? -- Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency -- Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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https://contentcafe2.btol.com/ContentCafe/Jacket.aspx?Return=1&Type=S&Value=9783662541197&userID=ebsco-test&password=ebsco-test
Dimensions
unknown
http://library.link/vocab/discovery_link
{'f': 'http://opac.lib.rpi.edu/record=b4258243'}
Edition
1st ed. 2017.
Extent
VI, 111 p. 20 illus., 14 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783662541197
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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