Literature DB >> 4112371

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.

V A McKusick, R R Howell, I E Hussels, E F Neufeld, R E Stevenson.   

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Year:  1972        PMID： 4112371     DOI： 10.1016/s0140-6736(72)91159-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  27 in total

1.  A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

Authors:  E L Schneider; P G Pentchev; S R Hibbert; A Sawitsky; R O Brady
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

2.  Hurler-Scheie phenotype associated with consanguinity.

Authors:  D L Davies; G N Dutton; J Farquharson; R W Logan; J L Tolmie
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

Review 4.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

5.  Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.

Authors:  S Fujibayashi; R Minami; Y Ishikawa; K Wagatsuma; T Nakao; S Tsugawa
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 6.  Large animal models of neurological disorders for gene therapy.

Authors:  Christine Gagliardi; Bruce A Bunnell
Journal:  ILAR J       Date:  2009

7.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

8.  Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes.

Authors:  O Gabrielli; U Salvolini; M Maricotti; M G Mariani; G V Coppa; P L Giorgi
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

9.  Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Authors:  H S Scott; T Litjens; P V Nelson; P R Thompson; D A Brooks; J J Hopwood; C P Morris
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

10.  The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.

Authors:  G Bach; R Friedman; B Weissmann; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-08       Impact factor: 11.205
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