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JIMD reports. Volume 44

Author: Eva MoravaMatthias R BaumgartnerMarc PattersonShamima RahmanJohannes ZschockeAll authors
Publisher: Berlin, Germany : Springer, [2019]
Edition/Format:   eBook : Document : EnglishView all editions and formats
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.
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Genre/Form: Electronic books
Additional Physical Format: (OCoLC)1076245146
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Eva Morava; Matthias R Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters
ISBN: 9783662586174 3662586177
OCLC Number: 1081304374
Description: 1 online resource.
Contents: Intro; Contents; A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises a...; Abstract; Introduction; Subjects and Methods; Subjects; Genetic Studies; RNA Sequencing and RT-PCR; Measure of Mitochondrial Content of Coenzyme A; Results; Identification of Rare Variants in SLC25A42; The c.380+2T>A Variant Abolishes the Canonical Splicing of SLC25A42; Loss of SLC25A42 Is Associated with Reduced Amounts of Coenzyme A in Fibroblasts; Discussion; Synopsis; Details of the Contributions of Individual Authors Compliance with Ethics GuidelinesConflict of Interest; Details of Ethics Approval; A Patient Consent Statement; References; Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency; Abstract; Introduction; Materials and Methods; High-Throughput Sequencing; Results; Discussion; Conclusion; Synopsis; Corresponding Author; Guarantor; Details of Funding; Compliance with Ethics Guidelines; Conflict of Interest Statements; Informed Consent; Institutional Committee for Care and Use of Laboratory Animals; Details of the Contributions of Individual Authors; References Sialuria: Ninth Patient Described Has a Novel Mutation in GNEAbstract; Introduction; Materials and Methods; The Case; Discussion; Take-Home Message; Contributions of the Individual Authors; Corresponding Author; References; Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adreno...; Abstract; Introduction; Materials and Methods; Materials; Plasmid Construction; Cell Culture and Stable Transfection; Fluorescence-Based Assay Method for the Screening of Chemical Libraries; Immunofluorescence Analysis; Other Methods; Results Stability of Missense Mutant ABCD1 Proteins in X-ALD FibroblastsStability of the Mutant ABCD1 Proteins Expressed in CHO Cells; Screening Method Using CHO/mutABCD1-GFP; Screening of Existing Drugs; Discussion; Take-Home Message; Conflict of Interest; Informed Consent; Animal Rights; Author Contributions; References; Psychosocial Functioning in Parents of MPS III Patients; Abstract; Introduction; Methods; Participants and Procedures; Measures; Sociodemographic Characteristics; Anxiety and Depression; Parental Distress; Posttraumatic Stress; Statistical Analyses; Results Sociodemographic CharacteristicsAnxiety and Depression; Parental Distress; Posttraumatic Stress; Discussion; Synopsis; Details of Author Contributions; Corresponding Author; Competing Interest Statement; Funding; Ethics Approval; Patient Consent; Institutional Committee for Care and Use of Laboratory Animals; References; The Second Case of Saposin A Deficiency and Altered Autophagy; Abstract; Introduction; Material and Methods; Case Report; Biochemical Studies; Enzyme Assay; Cell Culture; Glycosphingolipid (GSL) Extraction and Thin Layer Chromatography; Immunofluorescence
Responsibility: Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters, editors.

Abstract:

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  Read more...

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