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

JIMD Reports, Volume 15

Overview of attention for book
Cover of 'JIMD Reports, Volume 15'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 291 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3
  3. Altmetric Badge
    Chapter 292 Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood
  4. Altmetric Badge
    Chapter 293 Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
  5. Altmetric Badge
    Chapter 294 Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
  6. Altmetric Badge
    Chapter 295 Report of Two Never Treated Adult Sisters with Aromatic l -Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?
  7. Altmetric Badge
    Chapter 296 Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
  8. Altmetric Badge
    Chapter 298 Mortality in Patients with Morquio Syndrome A
  9. Altmetric Badge
    Chapter 299 Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease.
  10. Altmetric Badge
    Chapter 300 Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
  11. Altmetric Badge
    Chapter 302 Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
  12. Altmetric Badge
    Chapter 303 Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations
  13. Altmetric Badge
    Chapter 304 Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme(®)) to Agalsidase Alfa (Replagal (®)).
  14. Altmetric Badge
    Chapter 305 Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy
  15. Altmetric Badge
    Chapter 306 Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood
  16. Altmetric Badge
    Chapter 308 Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
  17. Altmetric Badge
    Chapter 369 Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
Attention for Chapter 299: Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease.
Altmetric Badge

Readers on

mendeley
12 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
Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease.
Chapter number 299
Book title
JIMD Reports, Volume 15
Published in
JIMD Reports, March 2014
DOI 10.1007/8904_2014_299
Pubmed ID
24664877
Book ISBNs
978-3-66-243750-6, 978-3-66-243751-3
Authors

McNamara ER, Sullivan J, Nagaraj SK, Wiener JS, Kishnani PS, McNamara, Erin R., Sullivan, Jennifer, Nagaraj, Shashi K., Wiener, John S., Kishnani, Priya S., Erin R. McNamara, Jennifer Sullivan, Shashi K. Nagaraj, John S. Wiener, Priya S. Kishnani

View on publisher site
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 17%
Student > Ph. D. Student 2 17%
Lecturer > Senior Lecturer 1 8%
Student > Doctoral Student 1 8%
Student > Bachelor 1 8%
Other 2 17%
Unknown 3 25%
Readers by discipline Count As %
Medicine and Dentistry 8 67%
Arts and Humanities 1 8%
Unknown 3 25%

This page is provided by Altmetric.