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JIMD Reports, Volume 18

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Cover of 'JIMD Reports, Volume 18'

Table of Contents

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    Book Overview
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    Chapter 333 Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)
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    Chapter 337 Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team
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    Chapter 344 Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I
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    Chapter 345 Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease
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    Chapter 346 Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments
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    Chapter 348 Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease
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    Chapter 350 Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III
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    Chapter 351 Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B<sub>12</sub> Deficiency in the Old Order Mennonite Population of Southwestern Ontario.
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    Chapter 352 A Cause of Permanent Ketosis: GLUT-1 Deficiency
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    Chapter 353 JIMD Reports, Volume 18
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    Chapter 354 The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases.
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    Chapter 357 Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease
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    Chapter 358 JIMD Reports, Volume 18
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    Chapter 360 Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series.
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    Chapter 368 Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1 : An Exception to the Known Genotype–Phenotype Correlation
Attention for Chapter 345: Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease
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Chapter title
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease
Chapter number 345
Book title
JIMD Reports, Volume 18
Published in
JIMD Reports, September 2014
DOI 10.1007/8904_2014_345
Pubmed ID
Book ISBNs
978-3-66-244862-5, 978-3-66-244863-2
Authors

Yohta Shimada, Erica Nishimura, Hiroo Hoshina, Hiroshi Kobayashi, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida, Toya Ohashi, Shimada, Yohta, Nishimura, Erica, Hoshina, Hiroo, Kobayashi, Hiroshi, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki, Ohashi, Toya

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 6%
Unknown 17 94%

Demographic breakdown

Readers by professional status Count As %
Other 4 22%
Researcher 4 22%
Student > Bachelor 3 17%
Student > Ph. D. Student 2 11%
Student > Doctoral Student 1 6%
Other 2 11%
Unknown 2 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 33%
Medicine and Dentistry 5 28%
Agricultural and Biological Sciences 2 11%
Linguistics 1 6%
Neuroscience 1 6%
Other 1 6%
Unknown 2 11%