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JIMD Reports, Volume 17

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Cover of 'JIMD Reports, Volume 17'

Table of Contents

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    Book Overview
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    Chapter 307 JIMD Reports, Volume 17
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    Chapter 313 Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment
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    Chapter 317 A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.
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    Chapter 327 Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis
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    Chapter 328 Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort
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    Chapter 329 The Complexity of Newborn Screening Follow-Up in Phenylketonuria
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    Chapter 331 Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia.
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    Chapter 332 m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening
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    Chapter 334 Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
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    Chapter 335 A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
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    Chapter 338 Cirrhosis Associated with Pyridoxal 5'-Phosphate Treatment of Pyridoxamine 5'-Phosphate Oxidase Deficiency.
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    Chapter 339 Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype
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    Chapter 340 Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.
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    Chapter 342 Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up
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    Chapter 343 Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III
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    Chapter 344 Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis
Attention for Chapter 334: Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
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Chapter title
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
Chapter number 334
Book title
JIMD Reports, Volume 17
Published in
JIMD Reports, August 2014
DOI 10.1007/8904_2014_334
Pubmed ID
Book ISBNs
978-3-66-244577-8, 978-3-66-244578-5
Authors

Nesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger, Nikolaus Tiling, Eugen Mengel, Ursula Plöckinger, Matthias Vorgerd, Marcus Deschauer, Benedikt Schoser, Frank Hanisch, Karabul, Nesrin, Skudlarek, Anika, Berndt, Janine, Kornblum, Cornelia, Kley, Rudolf A., Wenninger, Stephan, Tiling, Nikolaus, Mengel, Eugen, Plöckinger, Ursula, Vorgerd, Matthias, Deschauer, Marcus, Schoser, Benedikt, Hanisch, Frank

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 18%
Other 2 12%
Student > Ph. D. Student 2 12%
Student > Doctoral Student 2 12%
Researcher 2 12%
Other 2 12%
Unknown 4 24%
Readers by discipline Count As %
Medicine and Dentistry 5 29%
Neuroscience 3 18%
Biochemistry, Genetics and Molecular Biology 2 12%
Agricultural and Biological Sciences 2 12%
Linguistics 1 6%
Other 0 0%
Unknown 4 24%