Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study
نویسندگان
چکیده
منابع مشابه
Detection of phenylketonuric heterozygotes.
Estimation of plasma phenylalanine and tyrosine by an abridged (30 mm) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were obtained by column chromatography. All these series were combined a...
متن کاملMcArdle's Disease Heterozygotes
Two daughters of a propositus with documented McArdle's disease were shown by enzyme assay, gel electrophoresis, and immunoblotting to be partially deficient in skeletal muscle phosphorylase and, presumably, heterozygous for the trait. Both exhibited only the adult form of the skeletal muscle isozyme. By 31P-nuclear magnetic resonance, both heterozygotes showed a greater production of acid duri...
متن کامل’s syndrome heterozygotes in Japan
Werner’s syndrome is an autosomal recessive disease that causes premature ageing accompanied by an increased susceptibility to cancer. The causative gene (W R N) codes for a DNA helicase. Worldwide, 1200 patients have been reported from 1904 to 1996; 845 from Japan. Patients are distributed all over Japan. But how widely distributed is the mutated WRN gene in the general population? We previous...
متن کاملNiemann-Pick C disease: not your average lysosomal storage disease.
319 Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study R.N. Alcalay, A. Siderowf, R. Ottman, E. Caccappolo, H. Mejia-Santana, M.-X. Tang, L. Rosado, E. Louis, D. Ruiz, C. Waters, S. Fahn, L. Cote, S. Frucht, B. Ford, M. Orbe-Reilly, B. Ross, M. Verbitsky, S. Kisselev, C. Comella, A. Colcher, D. Jennings, M. Nance, S. Bressman, W.K. Scott, C. Tanner, S. Mickel, M. Re...
متن کاملDoes the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
INTRODUCTION Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain-3/p94. Although the symptoms in most LGMD2A patients are generally homogeneous, some variation in the severity and progression of the disease has been reported. METHODS We describe 2 patients who carry the same combination of compound heterozygous mutations (pG222R/pR748Q) and whose symptoms are ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2010
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31820882aa