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JIMD Reports, Volume 38

Overview of attention for book
Cover of 'JIMD Reports, Volume 38'

Table of Contents

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    Book Overview
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    Chapter 19 First Successful Conception Induced by a Male Cystinosis Patient
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    Chapter 21 Treatment of Depression in Adults with Fabry Disease
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    Chapter 24 Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism
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    Chapter 25 Mutations in GMPPB Presenting with Pseudometabolic Myopathy
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    Chapter 26 Glutaric Acidemia Type 1: A Case of Infantile Stroke.
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    Chapter 27 Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
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    Chapter 28 Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
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    Chapter 29 Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1
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    Chapter 30 Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
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    Chapter 31 GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A
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    Chapter 32 Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1- Deficient Mice
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    Chapter 33 Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening
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    Chapter 34 A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment
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    Chapter 35 An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
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    Chapter 37 Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency
Attention for Chapter 25: Mutations in GMPPB Presenting with Pseudometabolic Myopathy
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Chapter title
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Chapter number 25
Book title
JIMD Reports, Volume 38
Published in
JIMD Reports, May 2017
DOI 10.1007/8904_2017_25
Pubmed ID
Book ISBNs
978-3-66-256609-1, 978-3-66-256610-7
Authors

Panicucci, Chiara, Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Brisca, Giacomo, Trucco, Federica, Pedemonte, Marina, Lanteri, Paola, Sciarretta, Lucia, Minetti, Carlo, Santorelli, Filippo M, Bruno, Claudio, Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno, Santorelli, Filippo M.

Abstract

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability. Cardiac involvement, including a long QT interval and left ventricular dilatation, has also been described in four cases.Two missense mutations in GMPPB gene, one novel and one already reported, have been identified in a 21-year-old man presenting with elevated CK (38,650 UI/L; normal values <150 UI/L) without overt muscle weakness. Major complaints included limb myalgia, exercise intolerance, and several episodes of myoglobinuria consistent with a form of metabolic myopathy. Muscle biopsy showed only minimal alterations, whereas a marked reduction of glycosylated α-DG was evident.This case further expands the phenotypic spectrum of GMPPB mutations and highlights the importance of exhaustive molecular characterization of patients with reduced glycosylation of α-DG at muscle biopsy.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 23%
Student > Master 4 18%
Student > Ph. D. Student 3 14%
Other 3 14%
Student > Doctoral Student 1 5%
Other 1 5%
Unknown 5 23%
Readers by discipline Count As %
Neuroscience 6 27%
Biochemistry, Genetics and Molecular Biology 3 14%
Nursing and Health Professions 2 9%
Immunology and Microbiology 1 5%
Agricultural and Biological Sciences 1 5%
Other 2 9%
Unknown 7 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 01 May 2017.
All research outputs
#16,681,672
of 26,017,215 outputs
Outputs from JIMD Reports
#118
of 270 outputs
Outputs of similar age
#191,463
of 328,587 outputs
Outputs of similar age from JIMD Reports
#3
of 8 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. This one is in the 33rd percentile – i.e., 33% of other outputs scored the same or lower than it.
So far Altmetric has tracked 270 research outputs from this source. They receive a mean Attention Score of 2.5. This one has gotten more attention than average, scoring higher than 54% 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 328,587 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.