JIMD Reports - JIMD Reports - Volume 11
Latest Publications

TOTAL DOCUMENTS

22
(FIVE YEARS 0)

H-INDEX

11
(FIVE YEARS 0)

Published By Springer Berlin Heidelberg

9783642373275, 9783642373282
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

2013 ◽  
pp. 133-137 ◽  
Author(s):  
R. Parini ◽  
F. Furlan ◽  
A. Brambilla ◽  
D. Codazzi ◽  
S. Vedovati ◽  
...  
Keyword(s):  
Methylmalonic Acidemia ◽  
Metabolic Decompensation

scholarly journals Socio-emotional Problems in Children with CDG

2013 ◽  
pp. 139-148 ◽  
Author(s):  
K. F. E. van de Loo ◽  
L. van Dongen ◽  
M. Mohamed ◽  
T. Gardeitchik ◽  
T. W. Kouwenberg ◽  
...  
Keyword(s):  
Emotional Problems

scholarly journals Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

2013 ◽  
pp. 25-30 ◽  
Author(s):  
E. Santos Silva ◽  
M. L. Cardoso ◽  
L. Vilarinho ◽  
M. Medina ◽  
C. Barbot ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Neurological Impairment

scholarly journals A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

2013 ◽  
pp. 99-106 ◽  
Author(s):  
Yuxin Fan ◽  
Jon Steller ◽  
Iris L. Gonzalez ◽  
Wim Kulik ◽  
Michelle Fox ◽  
...  
Keyword(s):  
Barth Syndrome ◽  
Splicing Mutation

scholarly journals A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

2013 ◽  
pp. 13-16 ◽  
Author(s):  
Claire Searle ◽  
Brage Storstein Andresen ◽  
Ed Wraith ◽  
Jamie Higgs ◽  
Deborah Gray ◽  
...  
Keyword(s):  
Mcad Deficiency ◽  
Intragenic Deletion

scholarly journals Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

2013 ◽  
pp. 125-132 ◽  
Author(s):  
Nancy J. Mendelsohn ◽  
Timothy Wood ◽  
Rebecca A. Olson ◽  
Renee Temme ◽  
Susan Hale ◽  
...  
Keyword(s):  
Perthes Disease

scholarly journals Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

2013 ◽  
pp. 79-85 ◽  
Author(s):  
Paul Hoff Backe ◽  
Mari Ytre-Arne ◽  
Åsmund Kjendseth Røhr ◽  
Else Brodtkorb ◽  
Brian Fowler ◽  
...  
Keyword(s):  
Late Onset ◽  
Deletion Mutation ◽  
Methylmalonic Acidemia

scholarly journals Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

2013 ◽  
pp. 73-78 ◽  
Author(s):  
Edward C. W. Leung ◽  
Aizeddin A. Mhanni ◽  
Martin Reed ◽  
Michael P. Whyte ◽  
Hal Landy ◽  
...  
Keyword(s):  
Retrospective Cohort ◽  
Cohort Analysis ◽  
Retrospective Cohort Analysis

scholarly journals Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency

2013 ◽  
pp. 7-11 ◽  
Author(s):  
Lance Harrington Rodan ◽  
Navin Mishra ◽  
Ivanna Yau ◽  
Andrea Andrade ◽  
Komudi Siriwardena ◽  
...  
Keyword(s):  
Globus Pallidus ◽  
Methylmalonic Acid ◽  
Transcobalamin Ii
Load More ...
Sign in / Sign up

Export Citation Format

Share Document