Literature DB >> 4510595

The spectrum and diagnosis of acid maltase deficiency.

A G Engel, M R Gomez, M E Seybold, E H Lambert.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1973        PMID： 4510595     DOI： 10.1212/wnl.23.1.95

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  53 in total

1.  [Diagnosis and differential diagnosis of lysosomal glycogen storage disease].

Authors:  D Fischer; S Paus; R Schröder
Journal:  Nervenarzt       Date:  2003-10       Impact factor: 1.214

2.  Alpha-glucosidase deficiency in a child.

Authors:  R D Griffiths; D Heaf; A Cooper; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Progression in nemaline myopathy.

Authors:  I Nonaka; S Ishiura; K Arahata; H Ishibashi-Ueda; T Maruyama; K Ii
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

4.  Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency.

Authors:  Craig M Zaidman; Elizabeth C Malkus; Catherine Siener; Julaine Florence; Alan Pestronk; Muhammad Al-Lozi
Journal:  Muscle Nerve       Date:  2011-07-13       Impact factor: 3.217

5.  Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

Authors:  H Isaacs; N Savage; M Badenhorst; T Whistler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-09       Impact factor: 10.154

6.  Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.

Authors:  N Zhong; F Martiniuk; S Tzall; R Hirschhorn
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

7.  Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.

Authors:  A J McVie-Wylie; K L Lee; H Qiu; X Jin; H Do; R Gotschall; B L Thurberg; C Rogers; N Raben; M O'Callaghan; W Canfield; L Andrews; J M McPherson; R J Mattaliano
Journal:  Mol Genet Metab       Date:  2008-06-05       Impact factor: 4.797

8.  Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.

Authors:  A M Chancellor; C P Warlow; J N Webb; M G Lucas; G T Besley; D M Broadhead
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-07       Impact factor: 10.154

9.  Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.

Authors:  T Papapetropoulos; C Paschalis; P Manda
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-02       Impact factor: 10.154

10.  Biochemical, immunological, and cell genetic studies in glycogenosis type II.

Authors:  A J Reuser; J F Koster; A Hoogeveen; H Galjaard
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.