Literature DB >> 42439

Acid acylhydrolase deficiency in I-cell disease and pseudo-Hurler polydystrophy.

R C Pittman, J C Williams, A L Miller, D Steinberg.   

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Year:  1979        PMID: 42439     DOI: 10.1016/0005-2760(79)90109-7

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


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  4 in total

1.  Defective catabolism of low-density lipoprotein by fibroblasts from patients with I-cell disease.

Authors:  J C Williams; D B Weinstein; A L Miller; D Steinberg
Journal:  Biochem J       Date:  1982-01-15       Impact factor: 3.857

2.  Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Authors:  J M Hoeg; S J Demosky; O H Pescovitz; H B Brewer
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

3.  Mucolipidosis III is genetically heterogeneous.

Authors:  N K Honey; O T Mueller; L E Little; A L Miller; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1982-12       Impact factor: 11.205

Review 4.  Mucolipidoses Overview: Past, Present, and Future.

Authors:  Shaukat A Khan; Saori C Tomatsu
Journal:  Int J Mol Sci       Date:  2020-09-17       Impact factor: 5.923

  4 in total

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