↓ Skip to main content

JIMD Reports, Volume 41

Overview of attention for book
Cover of 'JIMD Reports, Volume 41'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 72 Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment
  3. Altmetric Badge
    Chapter 74 Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation
  4. Altmetric Badge
    Chapter 76 Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
  5. Altmetric Badge
    Chapter 80 Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example
  6. Altmetric Badge
    Chapter 81 Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
  7. Altmetric Badge
    Chapter 84 The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients
  8. Altmetric Badge
    Chapter 90 Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing
  9. Altmetric Badge
    Chapter 98 Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
  10. Altmetric Badge
    Chapter 102 Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
  11. Altmetric Badge
    Chapter 103 Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature
  12. Altmetric Badge
    Chapter 104 Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series
  13. Altmetric Badge
    Chapter 105 Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress
  14. Altmetric Badge
    Chapter 106 P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years
  15. Altmetric Badge
    Chapter 109 Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
  16. Altmetric Badge
    Chapter 120 Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Overall attention for this book and its chapters
Altmetric Badge

Mentioned by

twitter
21 tweeters
facebook
1 Facebook page
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 41
Published by
Springer Berlin Heidelberg, November 2018
DOI 10.1007/978-3-662-58081-3
ISBNs
978-3-66-258080-6, 978-3-66-258081-3
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 21 tweeters who shared this research output. Click here to find out more about how the information was compiled.