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JIMD Reports, Volume 17

Overview of attention for book
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 340: Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.
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Chapter title
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.
Chapter number 340
Book title
JIMD Reports, Volume 17
Published in
JIMD Reports, August 2014
DOI 10.1007/8904_2014_340
Pubmed ID
25155779
Book ISBNs
978-3-66-244577-8, 978-3-66-244578-5
Authors

Celia Atkinson, Isabelle R Miousse, David Watkins, David S Rosenblatt, Julian A J Raiman, Isabelle R. Miousse, David S. Rosenblatt, Julian A. J. Raiman, Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.

Abstract

Disorders of intracellular cobalamin (vitamin B12) metabolism result from deficient synthesis of the coenzymes derived from vitamin B12: adenosylcobalamin and methylcobalamin. Disturbances of cobalamin-cofactor synthesis result in elevated levels of homocysteine and/or methylmalonic acid. Nine defects of intracellular cobalamin metabolism have been defined. The most common of these disorders is cblC (combined methylmalonic aciduria and homocystinuria). The cblD disorder is rare with fewer than twenty cases reported in the literature. Some cblD patients have combined methylmalonic aciduria and homocystinuria (referred to as "cblD original," "cblD-combined," or herein "cblD-MMA/HC"); some have isolated homocystinuria (referred to as "cblD-variant 1" or herein "cblD-HC"); and others have isolated methylmalonic aciduria (called "cblD-variant 2" or herein "cblD-MMA"). Only six cases of cblD-HC have been defined thus far. We report the 7th case of cblD-HC. The clinical manifestations, biochemical profile, genetic mutation, and plausible ancestry are discussed.

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The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
 Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 33%
Unspecified 1 11%
Student > Postgraduate 1 11%
Other 1 11%
Student > Master 1 11%
Other 0 0%
Unknown 2 22%
Readers by discipline Count As %
Medicine and Dentistry 2 22%
Biochemistry, Genetics and Molecular Biology 2 22%
Unspecified 1 11%
Agricultural and Biological Sciences 1 11%
Nursing and Health Professions 1 11%
Other 0 0%
Unknown 2 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 27 August 2014.
All research outputs
#17,702,068
of 22,761,738 outputs
Outputs from JIMD Reports
#396
of 543 outputs
Outputs of similar age
#158,334
of 235,902 outputs
Outputs of similar age from JIMD Reports
#4
of 6 outputs
Altmetric has tracked 22,761,738 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 543 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 27th percentile – i.e., 27% of its peers scored the same or lower than it.
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 235,902 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
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.

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