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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 350: Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III
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Chapter title
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III
Chapter number 350
Book title
JIMD Reports, Volume 18
Published in
JIMD Reports, September 2014
DOI 10.1007/8904_2014_350
Pubmed ID
Book ISBNs
978-3-66-244862-5, 978-3-66-244863-2
Authors

Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T van der Ploeg, Frits A Wijburg, Jaap Jan Boelens, Ans T. van der Ploeg, Frits A. Wijburg, Welling, Lindsey, Marchal, Jan Pieter, Hasselt, Peter, Ploeg, Ans T., Wijburg, Frits A., Boelens, Jaap Jan, van Hasselt, Peter, van der Ploeg, Ans T.

Abstract

Mucopolysaccharidosis type III (MPS III), or Sanfilippo disease, is a neurodegenerative lysosomal storage disease (LSD) caused by defective lysosomal degradation of heparan sulfate (HS). No effective disease-modifying therapy is yet available. In contrast to some other neuronopathic LSDs, bone marrow-derived hematopoietic stem cell transplantation (HSCT) fails to prevent neurological deterioration in MPS III patients. We report on the 5-year outcome of early transplantation, i.e., before onset of clinical neurological disease, in combination with the use of umbilical cord blood-derived hematopoietic stem cells (UCBT), in two MPS III patients. Both patients had a normal developmental quotient at the time of UCBT. One patient had a combination of mutations predicting a classical severe phenotype (MPS IIIA), and one patient (MPS IIIB) had mutations predicting a very attenuated phenotype. Transplantation was uncomplicated with full engraftment of donor cells in both.Both patients showed progressive neurological deterioration with regression of cognitive skills and behavioral disturbances during 5 years after successful UCBT, comparable to the natural history of patients with the same combination of mutations. The concentration of HS in CSF in the patient with the attenuated phenotype of MPS IIIB 2 years after UCBT was very high and in the range of untreated MPS III patients.We conclude that the course of cognitive development, behavioral problems, and absence of biochemical correction in CSF demonstrate the absence of relevant effect of UCBT in MPS III patients, even when performed before clinical onset of CNS disease.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 21%
Student > Bachelor 6 15%
Other 3 8%
Student > Master 3 8%
Professor 2 5%
Other 5 13%
Unknown 12 31%
Readers by discipline Count As %
Medicine and Dentistry 13 33%
Agricultural and Biological Sciences 5 13%
Biochemistry, Genetics and Molecular Biology 3 8%
Engineering 2 5%
Social Sciences 2 5%
Other 4 10%
Unknown 10 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 October 2014.
All research outputs
#13,313,598
of 23,186,937 outputs
Outputs from JIMD Reports
#208
of 559 outputs
Outputs of similar age
#117,140
of 253,159 outputs
Outputs of similar age from JIMD Reports
#4
of 6 outputs
Altmetric has tracked 23,186,937 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 559 research outputs from this source. They receive a mean Attention Score of 2.8. This one has gotten more attention than average, scoring higher than 61% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 253,159 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 53% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.