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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Front Neurol
June 2021
Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
Article Synopsis
- NANS-CDG is a newly identified genetic disorder caused by mutations in a gene critical for sialic acid synthesis, leading to various developmental issues.
- An observational study on nine patients revealed consistent symptoms such as intellectual disabilities, facial dysmorphisms, and skeletal abnormalities, along with newly observed issues like ophthalmological problems and gastrointestinal dysfunction.
- Biochemical analysis showed elevated levels of -acetylmannosamine (ManNAc) correlate with clinical severity, and genetic screening identified novel mutations, with potential treatment showing improved development in one patient.
[Treatment of hypo-low density-lipoprotein cholesterolemia].
Nihon Rinsho
July 2007
Division of Diabetes & Metabolism, Japanese Red Cross Sendai Hospital.
Life style changes improve insulin resistance in hyperinsulinaemic subjects: a one-year intervention study of hypertensives and normotensives in Dalby.
J Hypertens
September 1992
Health Sciences Centre, Lund University, Dalby, Sweden.
Objective: Insulin resistance and hyperinsulinaemia are, in some prospective studies, linked to an increased cardiovascular risk, at least in men. We tested the hypothesis that hyperinsulinaemia may be reduced by non-pharmacological methods independently of other cardiovascular risk factors.
Design: In a non-pharmacological intervention study for 1 year three groups of subjects (hypertensives as well as normotensives) were selected after stratification for insulin level at baseline.
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