Abstract:
:Patients with different types of mucopolysaccharidoses (MPS) lack specific lysosomal enzymes, which leads to tissue accumulation and urinary excretion of glycosaminoglycans (GAGs). Since little is known about the molecular composition of the excreted GAG fragments, we used two-dimensional [1H,13C]-correlation nuclear magnetic resonance (NMR) spectroscopy for a detailed analysis of the urinary GAGs of patients with MPS types I, II, IIIA, IVA and VI. The method revealed that the molecular structures of the excreted GAGs, i.e. heparan sulfate (HS), dermatan sulfate (DS), chondroitin sulfate (CS), and keratan sulfate (KS) are clearly distinct for the different MPS types. The chain terminal residues that are the normal substrates for the defective enzymes constitute characteristic sets of signals for each MPS type. The GAG chains show variations in carbohydrate composition and sulfation patterns that can be related to the different MPS types and clinical features. For example, two patients with MPS IIIA (M. Sanfilippo) with signs of CNS degeneration but only mild somatic features excrete a highly sulfated variant of HS, resembling HS in porcine brain, whereas a patient with MPS I (M. Scheie) and two patients with MPS II (M. Hunter), who present primarily with coarse facial features, joint contractures and skeletal deformities excrete a different type of HS with lower sulfation. In another case study, a patient with MPS IVA (M. Morquio), who presented mainly with skeletal dysplasia, excreted not only excessive amounts of KS but also a highly sulfated CS variant, resembling CS in articular cartilage. The high-resolution NMR analysis of urinary GAGs presented here for the first time provides a solid basis for future studies with a larger number of patients to further explore pathogenesis and course of the MPS diseases.
journal_name
NMR Biomedjournal_title
NMR in biomedicineauthors
Hochuli M,Wüthrich K,Steinmann Bdoi
10.1002/nbm.833subject
Has Abstractpub_date
2003-06-01 00:00:00pages
224-36issue
4eissn
0952-3480issn
1099-1492journal_volume
16pub_type
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journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3735
更新日期:2017-09-01 00:00:00
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journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/(sici)1099-1492(199706/08)10:4/5<208::aid-
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journal_title:NMR in biomedicine
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abstract::Here, we show that the sensitivity of (31)P MRSI of (31)P spins J-coupled to protons can be increased by almost a factor of three when compared with an optimal direct detection free induction decay. By direct detection integrated with multi-echo polarization transfer (DIMEPT), multiple signals from polarization transf...
journal_title:NMR in biomedicine
pub_type: 杂志文章
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journal_title:NMR in biomedicine
pub_type: 杂志文章
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更新日期:1999-12-01 00:00:00
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journal_title:NMR in biomedicine
pub_type: 杂志文章,评审
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更新日期:1998-11-01 00:00:00
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journal_title:NMR in biomedicine
pub_type: 杂志文章
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更新日期:2010-07-01 00:00:00
abstract::Mice are used in many studies to determine the role of genetic and molecular factors in mammalian development and human congenital diseases. MRI has emerged as a major method for analyzing mutant and transgenic phenotypes in developing mice, at both embryonic and neonatal stages. Progress in this area is reviewed, wit...
journal_title:NMR in biomedicine
pub_type: 杂志文章,评审
doi:10.1002/nbm.1146
更新日期:2007-05-01 00:00:00
abstract::The purpose of the present study was to characterize the metabolic profile of the visual cortex in streptozotocin-induced Type 1 diabetic rats by means of in vivo proton MRS. Several metabolite concentration ratios in the visual cortex were calculated. In addition, postmortem histologic analyses for retinal ganglion c...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3783
更新日期:2017-11-01 00:00:00
abstract::We describe and discuss the application of three-dimensional (3D) time-of-flight (TOF) magnetic resonance angiography (MRA) to visualize non-invasively the cerebral vasculature of the rat. MR angiograms of healthy spontaneously hypertensive rats were obtained without the use of contrast agents. Total imaging time rang...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/(sici)1099-1492(199906)12:4<189::aid-nbm55
更新日期:1999-06-01 00:00:00
abstract::The accuracy and precision of the quantification of metabolite concentrations in in vivo (1) H NMR spectroscopy are affected by linewidth and signal-to-noise ratio (SNR). To study the effect of both factors in in vivo (1) H NMR spectra acquired at ultrahigh field, a reference spectrum was generated by summing nine in ...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.2821
更新日期:2013-01-01 00:00:00
abstract::A noise figure and noise parameter measurement system was developed that consists of a combination spectrum and network analyzer, preamplifier, programmable power supply, noise source, tuning board, and desktop computer. The system uses the Y-factor method for noise figure calculation and allows calibrations to correc...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3138
更新日期:2014-08-01 00:00:00
abstract::Glucose metabolism in control and estrogen stimulated rat uteri was investigated using 13C NMR spectroscopy. By employing an NMR adapted perifusion system, and developing protocols and methods based on the application of [1-13C]glucose labeling, it was possible to measure, with a temporal resolution of 10 min, the kin...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1940070503
更新日期:1994-08-01 00:00:00
abstract::Dynamic contrast-enhanced MRI (DCE MRI) has been used to study tumor response to treatment for many years. In this study, the modified full width at half-maximum (mFWHM), calculated from the wash-in slope histogram, is proposed as a parameter for the evaluation of changes in tumor heterogeneity which respond to radiot...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.2882
更新日期:2013-04-01 00:00:00
abstract::Obesity causes damage to several organs, including the brain. Recent studies have been focusing on understanding the mechanisms through which obesity affects brain structure and function using neuroimaging techniques. A functional biomarker, such as cerebral blood flow (CBF), is a powerful tool that can be used to exp...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.4375
更新日期:2020-10-01 00:00:00
abstract::MRS provides a valuable tool for the non-invasive detection of brain γ-aminobutyric acid (GABA) in vivo. GABAergic dysfunction has been observed in the aging cerebellum. The study of cerebellar GABA changes is of considerable interest in understanding certain age-related motor disorders. However, little is known about...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3381
更新日期:2015-10-01 00:00:00
abstract::Although diffusion MRI has shown promise for the characterization of breast cancer, it has low specificity to malignant subtypes. Higher specificity might be achieved if the effects of cell morphology and molecular exchange across cell membranes could be disentangled. The quantification of exchange might thus allow th...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3504
更新日期:2016-05-01 00:00:00
abstract:OBJECTIVES:Quantitative MRI (qMRI) of muscles is a promising tool to measure disease progression or to assess therapeutic effects in neuromuscular diseases. Longitudinal imaging studies are needed to show sensitivity of qMRI in detecting disease progression in spinal muscular atrophy (SMA). In this pilot study we there...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.4473
更新日期:2021-01-22 00:00:00
abstract::We have developed a reliable, reproducible model of hypoxia in the gerbil. 1H and 31P NMR spectroscopy demonstrates that cerebral energy metabolism is very resistant to hypoxia. Cerebral blood flow (measured by hydrogen clearance) began to increase when the arterial oxygen tension (paO2) was reduced to 40-50 mm Hg, an...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1940050109
更新日期:1992-01-01 00:00:00
abstract::The possibility of quantifying the superimposed signal of glutamate and glutamine (Glx) and its components by ¹H magnetic resonance spectroscopy (MRS) in the spinal cord is an exciting challenge with important clinical applications in neurological conditions. The spinal cord is a particularly difficult region of inter...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.2867
更新日期:2013-03-01 00:00:00
abstract::133Cs NMR is a valuable tool for non-invasively probing biological systems. As a congener of potassium, it accumulates in the intracellular space, primarily through the action of the Na+-K+ pump (ATPase). In addition, it is possible to resolve the MR signal of 133Cs in different tissue compartments on the basis of che...
journal_title:NMR in biomedicine
pub_type: 杂志文章,评审
doi:10.1002/nbm.909
更新日期:2005-04-01 00:00:00
abstract::Development and evaluation of new anticancer drugs are expedited when minimally invasive biomarkers of pharmacokinetic and pharmacodynamic behaviour are available. Gene-directed enzyme prodrug therapy (GDEPT) is a suicide gene therapy in which the anticancer drug is activated in the tumor by an exogenous enzyme previo...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1375
更新日期:2009-06-01 00:00:00
abstract::The goal of this study was to validate metabolite quantification at short TE, with particular focus on how to best account for the macromolecular signal contribution. A robust, short-TE PRESS protocol is presented, which allows reliable quantification, in vivo, of metabolite signals at 3 T in human brain. Water suppre...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1219
更新日期:2008-06-01 00:00:00
abstract::The scyllo-inositol and myo-inositol concentrations of 24 normal human subjects were measured in vivo using 1H magnetic resonance spectroscopy at 4 T. Single-voxel short-echo (TE = 15 ms) metabolite spectra were collected from the white matter region of the corona radiata. Test-retest studies performed on 10 normal su...
journal_title:NMR in biomedicine
pub_type: 临床试验,杂志文章
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更新日期:2005-02-01 00:00:00
abstract::The aim of this study was to measure choline/creatine (Ch/Cr) levels through (1)H-MRS and apparent diffusion coefficient (ADC) values through diffusion-weighted MRI, and to correlate these values with the prognostic parameters of head and neck squamous cell carcinoma (HNSCC). The institutional review board approved th...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3472
更新日期:2016-04-01 00:00:00
abstract::Diffusion tensor MRI (DTI) is a method for the noninvasive assessment of cellular organization and integrity in vivo. In this study, in vivo DTI was performed to demonstrate its ability to reflect photoreceptor cell alignment in adult C57BL/6 wild-type mice. Age-matched retinal degeneration 1 (rd1) mice were employed ...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1609
更新日期:2011-06-01 00:00:00
abstract::Management of brain tumours in children would benefit from improved non-invasive diagnosis, characterisation and prognostic biomarkers. Metabolite profiles derived from in-vivo MRS have been shown to provide such information. Studies indicate that using optimum a priori information on metabolite contents in the constr...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.1432
更新日期:2010-01-01 00:00:00
abstract::In this study, we have performed simulations to address the effects of diffusion encoding parameters, signal-to-noise ratio (SNR) and T2 on skeletal muscle diffusion tensor indices and fiber tracts. Where appropriate, simulations were corroborated and validated by in vivo diffusion tensor imaging (DTI) of human skelet...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.2959
更新日期:2013-11-01 00:00:00
abstract::Structural high-resolution imaging of the brainstem can be of high importance in clinical practice. However, ultra-high field magnetic resonance imaging (MRI) is still restricted in use due to limited availability. Therefore, quantitative MRI techniques (quantitative susceptibility mapping [QSM], relaxation measuremen...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.4118
更新日期:2019-09-01 00:00:00
abstract::Boiling histotripsy (BH) is a new high intensity focused ultrasound (HIFU) ablation technique to mechanically fragmentize soft tissue into submicrometer fragments. So far, ultrasound has been used for BH treatment guidance and evaluation. The in vivo histopathological effects of this treatment are largely unknown. Her...
journal_title:NMR in biomedicine
pub_type: 杂志文章
doi:10.1002/nbm.3520
更新日期:2016-06-01 00:00:00