↓ Skip to main content
What is this page? Embed badge

JIMD Reports - Case and Research Reports, 2011/2

Overview of attention for book
Cover of 'JIMD Reports - Case and Research Reports, 2011/2'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 30 Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
  3. Altmetric Badge
    Chapter 32 Cardiac Arrest in Kearns–Sayre Syndrome
  4. Altmetric Badge
    Chapter 34 Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report
  5. Altmetric Badge
    Chapter 37 Carpal Tunnel Syndrome in Fabry Disease
  6. Altmetric Badge
    Chapter 38 A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
  7. Altmetric Badge
    Chapter 39 Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?
  8. Altmetric Badge
    Chapter 40 Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome
  9. Altmetric Badge
    Chapter 42 Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
  10. Altmetric Badge
    Chapter 45 Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia
  11. Altmetric Badge
    Chapter 46 The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder
  12. Altmetric Badge
    Chapter 49 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
  13. Altmetric Badge
    Chapter 50 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations
  14. Altmetric Badge
    Chapter 51 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
  15. Altmetric Badge
    Chapter 52 Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report
  16. Altmetric Badge
    Chapter 53 Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years
  17. Altmetric Badge
    Chapter 54 Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients
  18. Altmetric Badge
    Chapter 56 Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI
  19. Altmetric Badge
    Chapter 57 Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
  20. Altmetric Badge
    Chapter 59 Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience
  21. Altmetric Badge
    Chapter 60 Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
Attention for Chapter 30: Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
Altmetric Badge

Readers on

mendeley
8 Mendeley
Summary
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.
Chapter title
Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
Chapter number 30
Book title
JIMD Reports - Case and Research Reports, 2011/2
Published in
JIMD Reports, September 2011
DOI 10.1007/8904_2011_30
Pubmed ID
23430845
Book ISBNs
978-3-64-224757-6, 978-3-64-224758-3
Authors

Ariadna González-del Angel, José Velázquez-Aragón, Miguel A. Alcántara-Ortigoza, Marcela Vela-Amieva, Nancy Hernández-Martínez, Angel, Ariadna González-del, Velázquez-Aragón, José, Alcántara-Ortigoza, Miguel A., Vela-Amieva, Marcela, Hernández-Martínez, Nancy

View on publisher site
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 63%
Student > Ph. D. Student 2 25%
Other 1 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 3 38%
Biochemistry, Genetics and Molecular Biology 2 25%
Environmental Science 1 13%
Medicine and Dentistry 1 13%
Unknown 1 13%

This page is provided by Altmetric.