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Research Digest
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| Mar. 02 |
Valproic acid drugs not recommended in CPT II deficiency
Kottlors M et al. Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency. Neuromuscul Disord. 2001 Nov;11(8):757-9. [PubMed abstract] [MDA Technical Summary] |
| Nov. 01 |
Babies with Pompe's still doing well
Amalfitano A et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001 Mar-Apr;3(2):132-8. [PubMed abstract] [Quest] |
| Nov. 00 |
Alpha-glucosidase From Rabbit Milk Effective in Treating Pompe's Disease in Mice (Pre-clinical Data) Bijvoet AGA, et al. (1999): Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Human Molecular Genetics, 8(12):2145-2153. [PubMed abstract] [MDA Technical Summary] |
| Dec. 99 |
Two New Mutations Identified in the Carnitine Transporter That Lead to Systemic Carnitine Deficiency Vaz FM, et al. (1999): Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Human Genetics, 105:157-161. [PubMed abstract] |
| Dec. 99 |
Debrancher Deficiency May be Underdiagnosed: Four Clinical Categories Described Kiechl S, et al. (1999): Different clinical aspects of debrancher deficiency myopathy. Journal of Neurology, Neurosurgery and Psychiatry, 67:364-368. [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
Gene Therapy Delivered to Liver Effective in Correcting Acid Maltase Deficiency in Mice Amalfitano, A. et al. (1999): Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. Proceedings of the National Academy of Sciences, USA. 96:8861-8866. [PubMed abstract] [Quest] |
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