JIMD Reports - JIMD Reports, Volume 41
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15
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Published By Springer Berlin Heidelberg

9783662580806, 9783662580813
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

2018 ◽  
pp. 53-62 ◽  
Author(s):  
Bryony Langford ◽  
Megan Besford ◽  
Aimée Hall ◽  
Lucy Eddowes ◽  
Oliver Timmis ◽  
...  
Keyword(s):  
Severity Score ◽  
Severity Score Index ◽  
Score Index

scholarly journals Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

2018 ◽  
pp. 63-72 ◽  
Author(s):  
Adam J. Bittel ◽  
Kathryn L. Bohnert ◽  
Dominic N. Reeds ◽  
Linda R. Peterson ◽  
Lisa de las Fuentes ◽  
...  
Keyword(s):  
Pilot Study ◽  
Muscle Strength ◽  
Exercise Training ◽  
Resistance Exercise ◽  
Barth Syndrome ◽  
Resistance Exercise Training

scholarly journals Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone

2018 ◽  
pp. 109-117 ◽  
Author(s):  
A. S. Davison ◽  
B. P. Norman ◽  
E. A. Smith ◽  
J. Devine ◽  
J. Usher ◽  
...  
Keyword(s):  
Amino Acid ◽  
Before And After ◽  
Amino Acid Profiling

scholarly journals Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

2018 ◽  
pp. 29-36 ◽  
Author(s):  
Karolina M. Stepien ◽  
Gregory M. Pastores ◽  
Una Hendroff ◽  
Ciara McCormick ◽  
Patricia Fitzimons ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

scholarly journals Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

2018 ◽  
pp. 47-51 ◽  
Author(s):  
William A. Zeiger ◽  
Nasheed I. Jamal ◽  
Maren T. Scheuner ◽  
Patricia Pittman ◽  
Kimiyo M. Raymond ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease ◽  
Probable Diagnosis

scholarly journals The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients

2018 ◽  
pp. 37-45 ◽  
Author(s):  
Alexandra Ivleva ◽  
Ekaterina Weith ◽  
Atul Mehta ◽  
Derralynn A. Hughes
Keyword(s):  
Quality Of Life ◽  
Patient Reported
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