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The Resource JIMD Reports, Volume 33, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

JIMD Reports, Volume 33, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)

Label
JIMD Reports, Volume 33
Title
JIMD Reports, Volume 33
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
33
JIMD Reports, Volume 33, edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, (electronic resource)
Label
JIMD Reports, Volume 33, 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/10.1007/978-3-662-55012-0
Publication
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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
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease -- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II -- Gastrointestinal Health in Classic Galactosemia -- Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses -- Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria -- The Challenges of a Successful Pregnancy in a Patient with Adult Refsum{u2019}s Disease due to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency -- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features -- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling -- Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases -- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) -- Erratum to: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Erratum to: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
http://library.link/vocab/cover_art
https://contentcafe2.btol.com/ContentCafe/Jacket.aspx?Return=1&Type=S&Value=9783662550120&userID=ebsco-test&password=ebsco-test
Dimensions
unknown
http://library.link/vocab/discovery_link
{'f': 'http://opac.lib.rpi.edu/record=b4258247'}
Extent
VI, 110 p. 26 illus., 15 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783662550120
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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