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JIMD Reports, Volume 25

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JIMD Reports, Volume 25
Springer Berlin Heidelberg

Table of Contents

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    Book Overview
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    Chapter 421 Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
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    Chapter 454 The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
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    Chapter 456 PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
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    Chapter 457 The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
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    Chapter 458 Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
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    Chapter 459 Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
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    Chapter 461 Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
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    Chapter 462 New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
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    Chapter 465 Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
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    Chapter 466 Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease
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    Chapter 467 Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
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    Chapter 469 GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
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    Chapter 472 Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
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    Chapter 480 Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia
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    Chapter 483 Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease
Attention for Chapter 469: GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
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Chapter title
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
Chapter number 469
Book title
JIMD Reports, Volume 25
Published in
JIMD Reports, January 2015
DOI 10.1007/8904_2015_469
Pubmed ID
Book ISBNs
978-3-66-249667-1, 978-3-66-249668-8
Authors

Deborah Renaud, Michael Brodsky, Renaud, Deborah, Brodsky, Michael

Abstract

GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A. Less than ten patients, confirmed by molecular analysis, have been described in the literature.A 12-month-old Hmong girl presented to the neurometabolic clinic for evaluation of global developmental delay, hypotonia, and cherry red spots. The parents were not known to be consanguineous. Her examination was remarkable for hypotonia with hyperreflexia and excessive startling. The head circumference was normal. An extensive neurometabolic evaluation was negative.Developmental regression began at 14 months of age. Retinal examination at 16 months of age disclosed 4+ cherry red/black spots with "heaped up" ring of whitish infiltrate surrounding both foveae but no evidence of optic atrophy or peripheral retinal abnormalities. Repeat magnetic resonance imaging (MRI) scan at 17 months of age revealed delayed but interval myelination associated with abnormal signal intensity of the bilateral thalami presenting as T2 hyperintensity of the posterior thalami in the region of the pulvinar nuclei and T2 hypointensity in the anterior thalami. Sequencing of the GM2A gene revealed a homozygous c.160 G>T mutation, predicted to result in a premature protein termination p. Glu54*.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 7 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 43%
Student > Ph. D. Student 1 14%
Researcher 1 14%
Lecturer 1 14%
Unknown 1 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 29%
Agricultural and Biological Sciences 2 29%
Veterinary Science and Veterinary Medicine 1 14%
Neuroscience 1 14%
Unknown 1 14%