JIMD reports. Volume 38 / Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
Morava, Eva, editor.; Baumgartner, Matthias R., editor.; Patterson, Marc, editor.; Rahman, Shamima, editor.; Zschocke, Johannes, editor.; Peters, Verena, editor.
2018
RC627.8
Available Online

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Title JIMD reports. Volume 38 / Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
ISBN 9783662566107 (electronic book)
3662566109 (electronic book)
9783662566091
3662566095
DOI https://doi.org/10.1007/978-3-662-56610-7
Published Berlin, Germany : Springer, 2018.
Language English
Description 1 online resource.
Item Number 10.1007/978-3-662-56610-7 doi
Call Number RC627.8
Dewey Decimal Classification 616.3/9042
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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
Access Note Access limited to authorized users.
Digital File Characteristics text file PDF
Source of Description Online resource; title from PDF title page (SpringerLink, viewed April 3, 2018).
Added Author Morava, Eva, editor.
Baumgartner, Matthias R., editor.
Patterson, Marc, editor.
Rahman, Shamima, editor.
Zschocke, Johannes, editor.
Peters, Verena, editor.
Series JIMD reports ; v. 38.
Available in Other Form Print version: 9783662566091
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Record Appears in Online Resources > Ebooks
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Intro; Contents; First Successful Conception Induced by a Male Cystinosis Patient; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Details of the Contributions of Individual Authors; Competing Interest Statement; Details of Funding; Details of Ethical Approval; References; Glutaric Acidemia Type 1: A Case of Infantile Stroke; Abstract; Introduction; Case; Discussion; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Conflict of Interest; Details of Funding; Ethics Statements; References

Treatment of Depression in Adults with Fabry DiseaseAbstract; Introduction; Methods; Measures; Data Analysis; Results; Primary Results; Psychological Symptoms; Quality of Life; Pain; Discussion; One Sentence Take-Home Message; Contributions of Individual Authors; Conflicts of Interest; Funding Source; Informed Consent; References; Mutations in GMPPB Presenting with Pseudometabolic Myopathy; Abstract; Introduction; Case Report; Discussion; Take Home Message; Compliance With Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References

Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsAbstract; Introduction; Methods; Patients; Muscle Biopsy; Biochemical Analysis; Genetic Analysis; Case Reports; Patient 1; Patient 2; Patient 3; Patient 4; Patient 5; Patient 6; Results; Patients; Muscle Imaging; Genetic Analysis; Discussion; Synopsis; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contribution of Individual Authors; References; Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism; Abstract; Introduction; Case 1; Case 2

DiscussionSynopsis; Details of the Contributions of Individual Authors; References; Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Aga...; Abstract; Introduction; Methods; Results; Discussion; Conclusions; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; Financial Relationships for the Work Under Consideration for Publication; Relevant Financial Activities Outside the Submitted Work; References

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyAbstract; Introduction; Patients and Methods; Patients; GLUT1-DS Patients; PDHD Patients; Methods; Treatments; Ketone Bodies, Lactate, and PDHc Activity Measurement; In Vitro Oxidation Rate Measurement; Results; Clinical Follow-Up; Biological Follow-Up; In Vitro Study of 3-Hydroxybutyrate and Glucose Oxidation Ability in PDHD Fibroblasts; Discussion; Take-Home Message; Contribution of Individual Authors; Corresponding Author; Competing Interest Statement; Funding

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