The Resource JIMD reports, Volume 18, Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor

JIMD reports, Volume 18, Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor

Label
JIMD reports, Volume 18
Title
JIMD reports
Title number
Volume 18
Statement of responsibility
Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor
Contributor
Editor
Subject
Genre
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
Cataloging source
N$T
Dewey number
616.39042
Index
no index present
LC call number
RC627.8
Literary form
non fiction
Nature of contents
dictionaries
NLM call number
WD 205
http://library.link/vocab/relatedWorkOrContributorName
  • Zschocke, Johannes
  • Baumgartner, Matthias
  • Morava, Eva
  • Patterson, Marc
  • Rahman, Shamima
  • Peters, Verena
Series statement
JIMD Reports,
Series volume
18
http://library.link/vocab/subjectName
  • Metabolism, Inborn errors of
  • Metabolism
  • HEALTH & FITNESS
  • MEDICAL
  • MEDICAL
  • MEDICAL
  • MEDICAL
  • Metabolism
  • Metabolism, Inborn errors of
  • Biomedicine
  • Human Genetics
  • Metabolic Diseases
  • Pediatrics
  • Human Physiology
  • Metabolism, Inborn Errors
  • Metabolism
  • Paediatric medicine
  • Physiology
  • Medical genetics
Label
JIMD reports, Volume 18, Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-662-44863-2
Instantiates
Publication
Antecedent source
unknown
Bibliography note
ReferencesProteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal [alpha]-Glucosidase in Pompe Disease; Abstract; Introduction; Materials and Methods; Chemicals and Antibodies; Cell Cultures; Western Blot Analysis; Immunocytochemistry; Site-Directed Mutagenesis and Expression of Mutated GAA in HEK293T Cells; Quantitative Analyses of Proteins and GAA Activity; Results; Bortezomib Improves the Activity of Several Mutant GAAs in Fibroblasts from Patients with Pompe Disease
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
  • Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome); Abstract; Introduction; Methods; Data Source for Integrated Height Analysis; Definitions of Slowly and Rapidly Progressive Disease; Laboratory Assessments; Statistical Methods; Results; Demographics; MPS VI Growth Curves; Growth of Rapidly and Slowly Progressing MPS VI Patients; MPS VI Growth Charts and Z-Scores for Rapidly and Slowly Progressing MPS VI Patients; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Patient Consent Statement
  • Contributions of Individual AuthorsReferences; Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Beha ... ; Abstract; Introduction; Methods; Sample; HCPs; Patients; Procedure; Qualitative Research; Quantitative Research; Results; Sample Characteristics; Psychological Well-Being and Social Support; Relationship with HCPs; Perceptions of Illness and Treatment; Adherence; Factors Associated with Adherence to Diet and Medication; Illness Experience and Perceptions; Treatment Perceptions and Experiences
  • Patient and Family FactorsDiscussion; Recommendations and Conclusions; Disclaimer; Source of Support; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I; Abstract; Introduction; Methods; Results; Discussion; Take Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Financial Disclosure; Other Relationships; Ethics Approval; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors
  • Bortezomib Improves the Maturation and Intracellular Localization of Mutant GAAs in Patient Fibroblasts Carrying M519V and C64 ... Bortezomib Increases the Activity of Several Mutant GAAs in HEK293T Cells; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Disclosures; Informed Consent; Animal Rights; Contribution; References; Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments; Abstract; Introduction; Methods; Participants and Procedures; Participants with Fabry Disease; Control Participants
Dimensions
unknown
Extent
1 online resource.
File format
unknown
Form of item
online
Isbn
9783662448625
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-662-44863-2
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)905221049
  • (OCoLC)ocn905221049
Label
JIMD reports, Volume 18, Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor
Link
https://ezproxy.lib.ou.edu/login?url=http://link.springer.com/10.1007/978-3-662-44863-2
Publication
Antecedent source
unknown
Bibliography note
ReferencesProteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal [alpha]-Glucosidase in Pompe Disease; Abstract; Introduction; Materials and Methods; Chemicals and Antibodies; Cell Cultures; Western Blot Analysis; Immunocytochemistry; Site-Directed Mutagenesis and Expression of Mutated GAA in HEK293T Cells; Quantitative Analyses of Proteins and GAA Activity; Results; Bortezomib Improves the Activity of Several Mutant GAAs in Fibroblasts from Patients with Pompe Disease
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
  • Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome); Abstract; Introduction; Methods; Data Source for Integrated Height Analysis; Definitions of Slowly and Rapidly Progressive Disease; Laboratory Assessments; Statistical Methods; Results; Demographics; MPS VI Growth Curves; Growth of Rapidly and Slowly Progressing MPS VI Patients; MPS VI Growth Charts and Z-Scores for Rapidly and Slowly Progressing MPS VI Patients; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Patient Consent Statement
  • Contributions of Individual AuthorsReferences; Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Beha ... ; Abstract; Introduction; Methods; Sample; HCPs; Patients; Procedure; Qualitative Research; Quantitative Research; Results; Sample Characteristics; Psychological Well-Being and Social Support; Relationship with HCPs; Perceptions of Illness and Treatment; Adherence; Factors Associated with Adherence to Diet and Medication; Illness Experience and Perceptions; Treatment Perceptions and Experiences
  • Patient and Family FactorsDiscussion; Recommendations and Conclusions; Disclaimer; Source of Support; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I; Abstract; Introduction; Methods; Results; Discussion; Take Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Financial Disclosure; Other Relationships; Ethics Approval; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors
  • Bortezomib Improves the Maturation and Intracellular Localization of Mutant GAAs in Patient Fibroblasts Carrying M519V and C64 ... Bortezomib Increases the Activity of Several Mutant GAAs in HEK293T Cells; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Disclosures; Informed Consent; Animal Rights; Contribution; References; Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments; Abstract; Introduction; Methods; Participants and Procedures; Participants with Fabry Disease; Control Participants
Dimensions
unknown
Extent
1 online resource.
File format
unknown
Form of item
online
Isbn
9783662448625
Level of compression
unknown
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Note
SpringerLink
Other control number
10.1007/978-3-662-44863-2
Quality assurance targets
not applicable
Reformatting quality
unknown
Sound
unknown sound
Specific material designation
remote
System control number
  • (OCoLC)905221049
  • (OCoLC)ocn905221049

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