JIMD Reports - JIMD Reports, Volume 43
Latest Publications

TOTAL DOCUMENTS

15
(FIVE YEARS 0)

H-INDEX

4
(FIVE YEARS 0)

Published By Springer Berlin Heidelberg

9783662586136, 9783662586143
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

2018 ◽  
pp. 37-52 ◽  
Author(s):  
Ningning Guo ◽  
Victor DeAngelis ◽  
Changzhi Zhu ◽  
Edward H. Schuchman ◽  
Calogera M. Simonaro
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Pentosan Polysulfate ◽  
Type Iiia ◽  
Mucopolysaccharidosis Type Iiia

scholarly journals Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

2018 ◽  
pp. 91-101 ◽  
Author(s):  
Leanne K. Winner ◽  
Neil R. Marshall ◽  
Robert D. Jolly ◽  
Paul J. Trim ◽  
Stephen K. Duplock ◽  
...  
Keyword(s):  
Mps Iiia

scholarly journals RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

2018 ◽  
pp. 111-116 ◽  
Author(s):  
D. Quelhas ◽  
J. Jaeken ◽  
A. Fortuna ◽  
L. Azevedo ◽  
A. Bandeira ◽  
...  
Keyword(s):  
Pathogenic Variants

scholarly journals Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

2018 ◽  
pp. 103-109 ◽  
Author(s):  
Colleen M. Carlston ◽  
Sacha Ferdinandusse ◽  
Judith A. Hobert ◽  
Rong Mao ◽  
Nicola Longo
Keyword(s):  
Short Chain ◽  
Enoyl Coa Hydratase

scholarly journals Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

2018 ◽  
pp. 27-35 ◽  
Author(s):  
Anja von Renesse ◽  
Susanne Morales-Gonzalez ◽  
Esther Gill ◽  
Gajja S. Salomons ◽  
Werner Stenzel ◽  
...  
Keyword(s):  
Muscle Weakness
Load More ...
Sign in / Sign up

Export Citation Format

Share Document