Literature DB >> 4507329

Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients.

C Angelini, A G Engel, J L Titus.   

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Year:  1972        PMID： 4507329     DOI： 10.1056/NEJM197211092871902

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  8 in total

1.  Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

Authors:  N G Beratis; G U LaBadie; K Hirschhorn
Journal:  J Clin Invest       Date:  1978-12       Impact factor: 14.808

2.  An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.

Authors:  N G Beratis; G U LaBadie; K Hirschhorn
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

3.  The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult.

Authors:  G K Schlenska; R Heene; G Spalke; D Seiler
Journal:  J Neurol       Date:  1976-06-14       Impact factor: 4.849

4.  [Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].

Authors:  T Deufel; I Paetzke; D Pongratz; G Hübner; O H Wieland
Journal:  Klin Wochenschr       Date:  1984-07-16

5.  The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency.

Authors:  A M Umpleby; P S Trend; D Chubb; J V Conaglen; C D Williams; R Hesp; I N Scobie; C M Wiles; G Spencer; P H Sönksen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-08       Impact factor: 10.154

6.  Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features.

Authors:  E Kamensky; M Philippart; P Cancilla; S P Frommes
Journal:  Am J Pathol       Date:  1973-10       Impact factor: 4.307

7.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154

8.  Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.

Authors:  J J Martin; T de Barsy; W R den Tandt
Journal:  J Neurol       Date:  1976-08-06       Impact factor: 4.849
  8 in total

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