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JIMD Reports - Volume 12

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Cover of 'JIMD Reports - Volume 12'

Table of Contents

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    Book Overview
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    Chapter 234 Propionic Acidemia and Optic Neuropathy: A Report of Two Cases
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    Chapter 237 Chronic Kidney Disease in an Adult with Propionic Acidemia
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    Chapter 238 Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome.
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    Chapter 239 Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation
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    Chapter 240 Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes
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    Chapter 241 Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome
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    Chapter 242 A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
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    Chapter 243 Pulmonary Manifestations in a Patient with Transaldolase Deficiency
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    Chapter 244 Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility
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    Chapter 245 A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency
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    Chapter 246 Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts
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    Chapter 247 Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
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    Chapter 248 Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria
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    Chapter 249 A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase ( GALT ) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha ( IL11RA ) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities
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    Chapter 250 Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease
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    Chapter 251 Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
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    Chapter 252 Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
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    Chapter 253 No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3
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    Chapter 254 Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency
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    Chapter 255 Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
Attention for Chapter 240: Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes
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Chapter title
Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes
Chapter number 240
Book title
JIMD Reports - Volume 12
Published in
JIMD Reports, July 2013
DOI 10.1007/8904_2013_240
Pubmed ID
23821321
Book ISBNs
978-3-31-903460-7, 978-3-31-903461-4
Authors

Klaus Harzer, Stefanie Beck-Wödl, Peter Bauer, Harzer, Klaus, Beck-Wödl, Stefanie, Bauer, Peter

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 4%
Unknown 22 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 17%
Student > Bachelor 4 17%
Student > Ph. D. Student 3 13%
Student > Doctoral Student 2 9%
Other 2 9%
Other 6 26%
Unknown 2 9%
Readers by discipline Count As %
Medicine and Dentistry 6 26%
Agricultural and Biological Sciences 3 13%
Nursing and Health Professions 2 9%
Biochemistry, Genetics and Molecular Biology 2 9%
Neuroscience 2 9%
Other 3 13%
Unknown 5 22%

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