JIMD Reports - JIMD Reports, Volume 38
Latest Publications

TOTAL DOCUMENTS

15
(FIVE YEARS 0)

H-INDEX

5
(FIVE YEARS 0)

Published By Springer Berlin Heidelberg

9783662566091, 9783662566107
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry

2017 ◽  
pp. 45-51 ◽  
Author(s):  
William R. Wilcox ◽  
Ulla Feldt-Rasmussen ◽  
Ana Maria Martins ◽  
Alberto Ortiz ◽  
Roberta M. Lemay ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Significant Proportion ◽  
Gastrointestinal Symptoms ◽  
Agalsidase Beta ◽  
Female Patients

scholarly journals Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

2017 ◽  
pp. 53-59 ◽  
Author(s):  
F. Habarou ◽  
N. Bahi-Buisson ◽  
E. Lebigot ◽  
C. Pontoizeau ◽  
M. T. Abi-Warde ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Ketone Bodies ◽  
Glut1 Deficiency

scholarly journals First Successful Conception Induced by a Male Cystinosis Patient

2017 ◽  
pp. 1-6 ◽  
Author(s):  
Koenraad R. Veys ◽  
Kathleen W. D’Hauwers ◽  
Angelique J. C. M. van Dongen ◽  
Mirian C. Janssen ◽  
Martine T. P. Besouw ◽  
...  
Keyword(s):  
Cystinosis Patient

scholarly journals Mutations in GMPPB Presenting with Pseudometabolic Myopathy

2017 ◽  
pp. 23-31 ◽  
Author(s):  
Chiara Panicucci ◽  
Chiara Fiorillo ◽  
Francesca Moro ◽  
Guja Astrea ◽  
Giacomo Brisca ◽  
...  

scholarly journals Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice

2017 ◽  
pp. 67-74 ◽  
Author(s):  
Masashi Morita ◽  
Ayako Honda ◽  
Akira Kobayashi ◽  
Yuichi Watanabe ◽  
Shiro Watanabe ◽  
...  
Keyword(s):  
Gene Expression ◽  
Fatty Acid ◽  
Acid Level ◽  
Hepatic Gene Expression ◽  
Fatty Acid Level ◽  
Serum Fatty Acid ◽  
Lorenzo’S Oil ◽  
Deficient Mice

scholarly journals Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

2017 ◽  
pp. 33-40 ◽  
Author(s):  
Corrado Angelini ◽  
Daniela Tavian ◽  
Sara Missaglia
Keyword(s):  
Gene Mutations ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

scholarly journals A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment

2017 ◽  
pp. 89-95 ◽  
Author(s):  
Mitra Azadeh ◽  
Luying Pan ◽  
Yongchang Qiu ◽  
Ruben Boado
Keyword(s):  
Enzymatic Activity ◽  
Activity Assay ◽  
Pharmacokinetic Assessment ◽  
Enzymatic Activity Assay

scholarly journals Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1

2017 ◽  
pp. 81-88 ◽  
Author(s):  
Nathalie Guffon ◽  
Anders Bröijersén ◽  
Ingrid Palmgren ◽  
Mattias Rudebeck ◽  
Birgitta Olsson
Keyword(s):  
Crossover Study ◽  
Efficacy And Safety ◽  
Open Label ◽  
Once Daily ◽  
Tyrosinemia Type 1 ◽  
Hereditary Tyrosinemia ◽  
Single Sequence

scholarly journals Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

2017 ◽  
pp. 101-105 ◽  
Author(s):  
Peter van Vliet ◽  
Annelies E. Berden ◽  
Mojca K. M. van Schie ◽  
Jaap A. Bakker ◽  
Christian Heringhaus ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein

scholarly journals An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

2017 ◽  
pp. 97-100
Author(s):  
Pier Luigi Calvo ◽  
Marco Spada ◽  
Ivana Rabbone ◽  
Michele Pinon ◽  
Francesco Porta ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation
Load More ...
Sign in / Sign up

Export Citation Format

Share Document