JIMD Reports - JIMD Reports, Volume 45
Latest Publications

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16
(FIVE YEARS 0)

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4
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Published By Springer Berlin Heidelberg

9783662586464, 9783662586471
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

2018 ◽  
pp. 99-104 ◽  
Author(s):  
Imre F. Schene ◽  
Christoph G. Korenke ◽  
Hidde H. Huidekoper ◽  
Ludo van der Pol ◽  
Dennis Dooijes ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Neuromuscular Disorders ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

scholarly journals Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series

2018 ◽  
pp. 77-81 ◽  
Author(s):  
Pehuén Fernández ◽  
Shunko Oscar Fernández ◽  
Jacqueline Griselda Mariela Gonzalez ◽  
Tabaré Fernández ◽  
Cinthia Claudia Fernández ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Pregnant Women ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Case Series ◽  
Enzyme Replacement

scholarly journals Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency

2018 ◽  
pp. 9-20 ◽  
Author(s):  
Heng Wang ◽  
Valerie Sency ◽  
Paul McJarrow ◽  
Alicia Bright ◽  
Qianyang Huang ◽  
...  
Keyword(s):  
Growth And Development ◽  
Ganglioside Gm3 ◽  
Gm3 Synthase

scholarly journals A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency

2018 ◽  
pp. 105-110
Author(s):  
Andrea Medrano Behlmann ◽  
Namita A. Goyal ◽  
Xiaoyu Yang ◽  
Ping H. Chen ◽  
Arunkanth Ankala
Keyword(s):  
Hemizygous Deletion

scholarly journals Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience

2018 ◽  
pp. 29-36 ◽  
Author(s):  
Naresh P. Shanmugam ◽  
Joseph J. Valamparampil ◽  
Mettu Srinivas Reddy ◽  
Khoula Julenda Al Said ◽  
Khalid Al-Thihli ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Orthotopic Liver Transplantation ◽  
Liver Diseases ◽  
Single Centre ◽  
Single Centre Experience ◽  
Metabolic Liver Diseases

scholarly journals A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy

2018 ◽  
pp. 37-44 ◽  
Author(s):  
B. Ryder ◽  
M. Tolomeo ◽  
Z. Nochi ◽  
M. Colella ◽  
M. Barile ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency
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