JIMD Reports - JIMD Reports, Volume 43
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15
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4
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Published By Springer Berlin Heidelberg

9783662586136, 9783662586143
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

2018 ◽  
pp. 91-101 ◽  
Author(s):  
Leanne K. Winner ◽  
Neil R. Marshall ◽  
Robert D. Jolly ◽  
Paul J. Trim ◽  
Stephen K. Duplock ◽  
...  
Keyword(s):  
Mps Iiia

scholarly journals RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

2018 ◽  
pp. 111-116 ◽  
Author(s):  
D. Quelhas ◽  
J. Jaeken ◽  
A. Fortuna ◽  
L. Azevedo ◽  
A. Bandeira ◽  
...  
Keyword(s):  
Pathogenic Variants

scholarly journals Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

2018 ◽  
pp. 37-52 ◽  
Author(s):  
Ningning Guo ◽  
Victor DeAngelis ◽  
Changzhi Zhu ◽  
Edward H. Schuchman ◽  
Calogera M. Simonaro
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Pentosan Polysulfate ◽  
Type Iiia ◽  
Mucopolysaccharidosis Type Iiia

scholarly journals A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

2018 ◽  
pp. 79-83 ◽  
Author(s):  
Sara Musa ◽  
Wafaa Eyaid ◽  
Kimberli Kamer ◽  
Rehab Ali ◽  
Mariam Al-Mureikhi ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Middle Eastern ◽  
Phenotypic Spectrum

scholarly journals Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

2018 ◽  
pp. 103-109 ◽  
Author(s):  
Colleen M. Carlston ◽  
Sacha Ferdinandusse ◽  
Judith A. Hobert ◽  
Rong Mao ◽  
Nicola Longo
Keyword(s):  
Short Chain ◽  
Enoyl Coa Hydratase

scholarly journals Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

2018 ◽  
pp. 27-35 ◽  
Author(s):  
Anja von Renesse ◽  
Susanne Morales-Gonzalez ◽  
Esther Gill ◽  
Gajja S. Salomons ◽  
Werner Stenzel ◽  
...  
Keyword(s):  
Muscle Weakness

scholarly journals Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period

2018 ◽  
pp. 53-61 ◽  
Author(s):  
Teruo Miyazaki ◽  
Hironori Nagasaka ◽  
Haruki Komatsu ◽  
Ayano Inui ◽  
Ichiro Morioka ◽  
...  
Keyword(s):  
Amino Acid ◽  
Liver Function ◽  
Normal Liver ◽  
Normal Liver Function ◽  
Amino Acid Profiling ◽  
Apparently Healthy
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