PMID: 9551286Apr 29, 1998Paper

Neurometabolic disease

Current Opinion in Neurology
H W Moser

Abstract

Advances in knowledge of neurometabolic disease continues. Of great interest to the neurologist are the definitions of the molecular defects in Niemann-Pick C disease, Refsum disease, and five of the disorders of peroxisome biogenesis, including rhizomelic chondrodysplasia punctata. Duplication of the proteolipid protein gene is the most common molecular abnormality in Pelizaeus Merzbacher disease. Therapies for guanidinoacetate methyltransferase deficiency and for 3-phosphoglycerated dehydrogenase deficiency appear promising. Animal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in the understanding of pathogenesis and the evaluation of therapy.

References

Jan 1, 1992·Journal of Inherited Metabolic Disease·H W MoserW Krivit
Jan 1, 1988·Annual Review of Neuroscience·J G Sutcliffe
Jan 1, 1995·Human Molecular Genetics·N BravermanD Valle
Jun 1, 1996·Archives of Disease in Childhood·J JaekenE Van Schaftingen
Oct 3, 1996·The New England Journal of Medicine·M R NatowiczA E Rosenberg
Feb 1, 1996·Trends in Neurosciences·G KarpatiH Durham
Oct 25, 1996·Science·G D SchulerT J Hudson
Oct 1, 1996·The Journal of Cell Biology·B DistelM Veenhuis
Oct 1, 1996·Annals of Neurology·R H SwerdlowW D Parker
Dec 10, 1996·Proceedings of the National Academy of Sciences of the United States of America·B HessV Gieselmann
Jan 31, 1997·American Journal of Medical Genetics·R I Kelley
Jan 31, 1997·American Journal of Medical Genetics·M IronsG Salen
Apr 1, 1997·Nature Genetics·S Subramani
Apr 1, 1997·Neurology·M S van der KnaapJ Valk
Mar 27, 1997·Biochemical and Biophysical Research Communications·T KobayashiT Yamada
Apr 1, 1997·Current Opinion in Neurology·O Hurko
May 1, 1997·Acta Paediatrica·G MalmC Marcus
Jan 1, 1997·Human Mutation·A DoddD R Love
Jul 10, 1997·The New England Journal of Medicine·G A JansenS J Mihalik
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·J F LuK D Smith
Sep 1, 1997·Nature Genetics·M BaesG P Mannaerts
Nov 5, 1997·Nature Genetics·S J MihalikS J Gould
Nov 5, 1997·Nature Genetics·G A JansenR J Wanders
Oct 23, 1997·The New England Journal of Medicine·G N ThompsonC A Stanley
Oct 27, 1997·Neurology·R H SwerdlowW D Parker

❮ Previous
Next ❯

Citations

May 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J M JohnsonD Chitayat
Oct 11, 2003·Paediatric Anaesthesia·Joaquín Hernández-Palazón

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Related Papers

Current Opinion in Pediatrics
Gerald V Raymond
Handbook of Clinical Neurology
P Aubourg, R J Wanders
Developmental Disabilities Research Reviews
Nancy E BravermanGillian E Maclean
© 2022 Meta ULC. All rights reserved