ArticleEuropean radiology2013
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.
Article in European radiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.The British journal of radiology · 2023Article
- Clinical applications of artificial intelligence and radiomics in neuro-oncology imaging.Insights into imaging · 2021Review
- Symmetric, bilateral upper and lower extremity lucent lesions in a patient with Gaucher's disease on enzyme replacement therapy.Radiology case reports · 2020Article
- Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.Journal of medical genetics · 2020Article
- Multi-parametric arterial spin labelling and diffusion-weighted magnetic resonance imaging in differentiation of grade II and grade III gliomas.Polish journal of radiology · 2020Article
- Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.Journal of pediatric genetics · 2019Article
- Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.Neuroradiology · 2018Article
- Magnetic resonance spectroscopy of the frontal region in patients with metabolic syndrome: correlation with anthropometric measurement.Polish journal of radiology · 2018Article
- Article
- Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease.The Malaysian journal of medical sciences : MJMS · 2014Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the clinical usefulness of proton magnetic resonance spectroscopy ((1)H-MRS) in children with neuronopathic Gaucher's disease (NGD).
methodsA prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent (1)H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping.
resultsThere was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = -0.682; P = 0.001)
conclusion(1)H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. KEY POINTS: • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher's disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher's disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher's disease.
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