𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of glycogen storage disease by in vivo13C NMR comparison of normal volunteers with a patient

✍ Scribed by N. Beckmann; J. Seelig; H. Wick


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
590 KB
Volume
16
Category
Article
ISSN
0740-3194

No coin nor oath required. For personal study only.

✦ Synopsis


Abstract

Broadband proton‐decoupled natural abundance ^13^C spectra of the human calf. liver, and head were obtained from normal volunteers and a patient with glycogen type IIIA storage disease. Two concentric and coplanar surface coils of diameters 8.0 cm and 13.0 cm were used for ^13^C (at 16.0 MHz) and 'H (at 63.6 MHz), respectively. A WALTZ‐8 sequence lead to homogeneous decoupling over a large volume. In addition to lipid resonances a variety of other metabolite resonances could be resolved. The glycogen concentration in the muscle and the liver of normal volunteers varied considerably depending on dietary preparation and physical exercise. The glycogen level in the liver and the calf of a patient with glycogen type IIIA storage disease was increased by a factor of 2–3 compared to normal. well‐trained volunteers. Proton‐decoupled ^13^C spectra of human head are reported for the first time. The spectra are dominated by lipid resonances but an additional resonance at 54.0 ppm is clearly visible. The proton‐decoupled ^13^C head spectrum of a patient with glycogen type IIIA storage disease revealed additional resonances between 71.0 and 85.0 ppm. © 1990 Academic Press, Inc.


📜 SIMILAR VOLUMES


Glycogen Detection by in Vivo 13C NMR: A
✍ M. Saner; G. Mckinnon; P. Boesiger 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 565 KB

## Abstract The performance of gated proton decoupling and polarization transfer with respect to glycogen detection by ^13^C NMR was investigated. Experiments were performed on a 1.5 T whole‐body scanner using a ^13^C surface coil in combination with a proton head coil. Spectra were acquired from a

Novel mutation (G188R) in the G6Pase gen
✍ Pascale Trioche; Philippe Labrune; Michel Odièvre; Michelle Hedchouel; Jean-Fran 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB 👁 2 views

Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer (Easton et al., 1993; Ford et al., 1994). We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian canc