Literature DB >> 7623446

Plasma lysosomal enzyme levels in patients with motor neuron disease.

H Michelakakis1, A Papadimitriou, R Divaris, I Mavridou, E Dimitriou.   

Abstract

beta-Hexosaminidase and acid-alpha-mannosidase were estimated in 17 adult patients with motor neuron disease. Normal plasma levels of beta-hexosaminidase ((A+B) and A) were found in all patients studied. Plasma acid alpha-mannosidase levels were normal in all but two patients with the spinal muscular atrophy type of the disorder. In addition, altered biochemical properties of acid alpha-mannosidase (i.e. Km, thermal stability) were found in the low-activity cases.

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Year:  1995        PMID： 7623446     DOI： 10.1007/bf00711376

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Measurement of the alpha-mannosidase activities in human plasma by a differential assay.

Authors:  S Hirani; B G Winchester; A D Patrick
Journal:  Clin Chim Acta       Date:  1977-12-01       Impact factor: 3.786

Review 2.  Molecular genetics in neurology.

Authors:  J B Martin
Journal:  Ann Neurol       Date:  1993-12       Impact factor: 10.422

Review 3.  Amyotrophic lateral sclerosis: an unconventional autoimmune disease?

Authors:  D B Drachman; R W Kuncl
Journal:  Ann Neurol       Date:  1989-08       Impact factor: 10.422

Review 4.  Clinical consequences of heterozygosity for autosomal-recessive diseases.

Authors:  F Vogel
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

5.  Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

Authors:  J Bayleran; P Hechtman; W Saray
Journal:  Clin Chim Acta       Date:  1984-11-15       Impact factor: 3.786

Review 6.  Amyotrophic lateral sclerosis. Recent advances in pathogenesis and therapeutic trials.

Authors:  H Mitsumoto; M R Hanson; D A Chad
Journal:  Arch Neurol       Date:  1988-02

7.  Amyotrophic lateral sclerosis. Its natural history.

Authors:  J T Caroscio; M N Mulvihill; R Sterling; B Abrams
Journal:  Neurol Clin       Date:  1987-02       Impact factor: 3.806

8.  Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.

Authors:  H Mitsumoto; R J Sliman; I A Schafer; C S Sternick; B Kaufman; A Wilbourn; S J Horwitz
Journal:  Ann Neurol       Date:  1985-04       Impact factor: 10.422
  9 in total

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