JIMD Reports - JIMD Reports, Volume 44
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Published By Springer Berlin Heidelberg

9783662586167, 9783662586174
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Enzyme Replacement Therapy During Pregnancy in Fabry Patients

2018 ◽  
pp. 93-101 ◽  
Author(s):  
Christoffer V. Madsen ◽  
Erik Ilsø Christensen ◽  
Rikke Nielsen ◽  
Helle Mogensen ◽  
Åse K. Rasmussen ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement

scholarly journals Reversible Cerebral White Matter Abnormalities in Homocystinuria

2018 ◽  
pp. 115-119 ◽  
Author(s):  
Naila Ismayilova ◽  
Andrew D. MacKinnon ◽  
Helen Mundy ◽  
Penny Fallon
Keyword(s):  
White Matter ◽  
Cerebral White Matter ◽  
White Matter Abnormalities

scholarly journals Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

2018 ◽  
pp. 23-31 ◽  
Author(s):  
Masashi Morita ◽  
Shun Matsumoto ◽  
Airi Sato ◽  
Kengo Inoue ◽  
Dzmitry G. Kostsin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Approach ◽  
Therapeutic Compounds

scholarly journals Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties

2018 ◽  
pp. 79-84 ◽  
Author(s):  
R. Anderson ◽  
S. Rust ◽  
J. Ashworth ◽  
J. Clayton-Smith ◽  
R. L. Taylor ◽  
...  
Keyword(s):  
Learning Difficulties ◽  
Mild Case

scholarly journals Psychosocial Functioning in Parents of MPS III Patients

2018 ◽  
pp. 33-41 ◽  
Author(s):  
Thirsa Conijn ◽  
Stephanie C. M. Nijmeijer ◽  
Hedy A. van Oers ◽  
Frits A. Wijburg ◽  
Lotte Haverman
Keyword(s):  
Psychosocial Functioning ◽  
Mps Iii

scholarly journals Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency

2018 ◽  
pp. 9-15 ◽  
Author(s):  
Jasmine Lee-Barber ◽  
Taylor E. English ◽  
Jacquelyn F. Britton ◽  
Nara Sobreira ◽  
Jason Goldstein ◽  
...  
Keyword(s):  
Acetaminophen Toxicity

scholarly journals Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort

2018 ◽  
pp. 109-114 ◽  
Author(s):  
Andreas Traschütz ◽  
Michael Thomas Heneka
Keyword(s):  
Memory Clinic ◽  
Type C ◽  
Niemann Pick

scholarly journals Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

2018 ◽  
pp. 17-21 ◽  
Author(s):  
Noelia Nunez Martinez ◽  
Michelle Lipke ◽  
Jacqueline Robinson ◽  
Bridget Wilcken
Keyword(s):  
Novel Mutation

scholarly journals Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia

2018 ◽  
pp. 103-107
Author(s):  
Katherine Taylor Wild ◽  
Rebecca D. Ganetzky ◽  
Marc Yudkoff ◽  
Lynne Ierardi-Curto
Keyword(s):  
Neonatal Hyperammonemia
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