Coverart for item
The Resource JIMD Reports, Volume 35, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

JIMD Reports, Volume 35, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

Label
JIMD Reports, Volume 35
Title
JIMD Reports, Volume 35
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
35
JIMD Reports, Volume 35, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)
Label
JIMD Reports, Volume 35, 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/10.1007/978-3-662-55833-1
Publication
Related Contributor
Related Location
Related Agents
Related Authorities
Related Subjects
Related Items
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
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability -- Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants -- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children{u2019}s Hospital -- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch{u2013}Nyhan Disease: A Case Report and Review of the Literature -- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient -- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine -- Previously Unreported Biallelic Mutation in DNAJC19:Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? -- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience -- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening -- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency -- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts -- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria -- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis -- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report -- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother -- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
http://library.link/vocab/cover_art
https://contentcafe2.btol.com/ContentCafe/Jacket.aspx?Return=1&Type=S&Value=9783662558331&userID=ebsco-test&password=ebsco-test
Dimensions
unknown
http://library.link/vocab/discovery_link
{'f': 'http://opac.lib.rpi.edu/record=b4380153'}
Extent
VI, 117 p. 20 illus., 10 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783662558331
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

Library Locations

    • Folsom LibraryBorrow it
      110 8th St, Troy, NY, 12180, US
      42.729766 -73.682577
Processing Feedback ...