↓ Skip to main content

JIMD Reports, Volume 42

Overview of attention for book
Cover of 'JIMD Reports, Volume 42'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 64 Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
  3. Altmetric Badge
    Chapter 67 A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
  4. Altmetric Badge
    Chapter 70 Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
  5. Altmetric Badge
    Chapter 71 EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
  6. Altmetric Badge
    Chapter 73 Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair
  7. Altmetric Badge
    Chapter 75 The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria
  8. Altmetric Badge
    Chapter 77 Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops
  9. Altmetric Badge
    Chapter 78 Mitochondrial Disease in Children: The Nephrologist’s Perspective
  10. Altmetric Badge
    Chapter 79 Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis
  11. Altmetric Badge
    Chapter 83 Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients
  12. Altmetric Badge
    Chapter 85 Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
  13. Altmetric Badge
    Chapter 86 Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
  14. Altmetric Badge
    Chapter 87 Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis
  15. Altmetric Badge
    Chapter 88 Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
  16. Altmetric Badge
    Chapter 89 Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
Overall attention for this book and its chapters
Altmetric Badge

Mentioned by

twitter
7 tweeters
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
JIMD Reports, Volume 42
Published by
Springer Berlin Heidelberg, January 2019
DOI 10.1007/978-3-662-58365-4
ISBNs
978-3-66-258364-7, 978-3-66-258365-4
Editors

Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

Twitter Demographics

The data shown below were collected from the profiles of 7 tweeters who shared this research output. Click here to find out more about how the information was compiled.