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  • Book
    edited by Shamim I. Ahmad.
    Contents:
    Triple A syndrome / Vijaya Sarathi and Nalini S. Shah
    Amyotrophic lateral sclerosis / J. Jefferson ... [et al.]
    Early onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 / Masayoshi Tada ... [et al.]
    Clinical features and pathogenesis of Alzheimer's disease : involvement of mitochondria and mitochondrial DNA / Michelangelo Mancuso ... [et al.]
    Huntington's disease / Emmanuel Roze ... [et al.]
    Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA) / Masahisa Katsuno ... [et al.]
    Spinocerebellar ataxia with axonal neuropathy / Cheryl Walton ... [et al.]
    Tuberous sclerosis complex and DNA repair / Samy L. Habib
    Hereditary photodermatoses / Dennis H. Oh and Graciela Spivak
    Trichothiodystrophy : photosensitive, TTDP, TTD,Tay syndrome / W. Clark Lambert, Claude E. Gagna, and Muriel W. Lambert
    Cornelia De Lange syndrome / Jinglan Liu and Gareth Baynam
    Rectal cancer and importance of chemoradiation in the treatment / Sergio Huerta
    Familial cutaneous melanoma / Johan Hansson
    Primary immunodeficiency syndromes / Mary A. Slatter and Andrew R. Gennery
    Inherited defects of immunoglobulin class switch recombination / Sven Kracker, Pauline Gardøs, and Anne Durandy
    Ligase IV syndrome / Dimitry A. Chistiakov
    Muir-Torre syndrome / Pedro Mercader
    Wilms' tumor / Carlos H. Martinez, Sumit Dave, and Jonathan Izawa
    Cerebro-oculo-facio-skeletal syndrome / Hiroshi Suzumura and Osamu Arisaka
    Dyskeratosis congenita / Vineeta Gupta and Akash Kumar
    Retinoblastoma / Dietmar Lohmann
    Von Hippel Lindau syndrome / Jenny J. Kim, Brian I. Rini, and Donna E. Hansel.
    Digital Access Springer 2010
    Access via Advances in experimental medicine and biology ; 2010; 685
    Location
    Version
    Call Number
    Items
    Advances in experimental medicine and biology ; 2010; 685
    c2010
  • Article
    Miranda AF, Nette EG, Hartlage PL, DiMauro S.
    Neurology. 1979 Nov;29(11):1538-41.
    Phosphorylase isoenzymes were studied by acrylamide-slab electrophoresis in normal tissues and in the heart of a child with a fatal infantile form of myophosphorylase deficiency. Of the three bands present in normal human heart, two were missing in the patient's heart: the slow "muscle" isoenzyme and the intermediate band. Only the fast "cardiac" isoenzyme remained. When extracts of normal skeletal muscle and the patient's heart were mixed in appropriate conditions, the intermediate band reappeared in the electropherogram. Phosphorylase activity in extracts of the patient's heart was not inhibited by antibodies against purified enzyme from mature human muscle, whereas normal human heart phosphorylase was inhibited by approximately 50%. These results suggest that the intermediate band of human heart phosphorylase is a hybrid of skeletal and cardiac muscle isoenzymes. Retained activity of the cardiac isoenzyme may explain why patients genetically lacking skeletal muscle phosphorylase do not have clinical heart disease.
    Digital Access Access Options