↓ Skip to main content

JIMD Reports, Volume 30

Overview of attention for book
Cover of 'JIMD Reports, Volume 30'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 475 Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
  3. Altmetric Badge
    Chapter 510 Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
  4. Altmetric Badge
    Chapter 522 A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV
  5. Altmetric Badge
    Chapter 523 The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
  6. Altmetric Badge
    Chapter 524 Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency
  7. Altmetric Badge
    Chapter 527 Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I
  8. Altmetric Badge
    Chapter 530 Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome
  9. Altmetric Badge
    Chapter 531 A New Approach for Fast Metabolic Diagnostics in CMAMMA
  10. Altmetric Badge
    Chapter 532 Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor
  11. Altmetric Badge
    Chapter 533 Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
  12. Altmetric Badge
    Chapter 534 A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.
  13. Altmetric Badge
    Chapter 536 Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
  14. Altmetric Badge
    Chapter 538 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis
  15. Altmetric Badge
    Chapter 539 Chronic Oral l -Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
  16. Altmetric Badge
    Chapter 540 Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
  17. Altmetric Badge
    Chapter 542 Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI
Overall attention for this book and its chapters
Altmetric Badge

Mentioned by

twitter
10 X users
wikipedia
105 Wikipedia pages

Citations

dimensions_citation
1 Dimensions

Readers on

mendeley
2 Mendeley
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 30
Published by
Springer Berlin Heidelberg, November 2016
DOI 10.1007/978-3-662-53681-0
ISBNs
978-3-66-253680-3, 978-3-66-253681-0
Editors

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

X Demographics

X Demographics

The data shown below were collected from the profiles of 10 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 2 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 2 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 1 50%
Unknown 1 50%
Readers by discipline Count As %
Business, Management and Accounting 1 50%
Unknown 1 50%