Literature DB >> 4215475

Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy.

G Hug, W K Schubert, S Soukup.   

Abstract

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Year:  1973        PMID： 4215475

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  3 in total

1.  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

2.  Uptake of lysosomal enzymes by human fibroblasts: lack of uptake of fungal or plant glycosidases in comparison with a mammalian enzyme.

Authors:  K C Dooley; D A Applegarth
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

3.  Pompe disease diagnosis and management guideline.

Authors:  Priya S Kishnani; Robert D Steiner; Deeksha Bali; Kenneth Berger; Barry J Byrne; Laura E Case; Laura Case; John F Crowley; Steven Downs; R Rodney Howell; Richard M Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S Millington; Marc Nicolino; Gwen O'Grady; Marc C Patterson; David M Rapoport; Alfred Slonim; Carolyn T Spencer; Cynthia J Tifft; Michael S Watson
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822
  3 in total

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