Literature DB >> 6818347

A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.

I D Young, P S Harper, I M Archer, R G Newcombe.   

Abstract

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Year:  1982        PMID： 6818347      PMCID： PMC1048950          DOI： 10.1136/jmg.19.6.401

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

Review 1.  [Diseases caused by genetic defects in lysosomal muco-polysaccharide-catabolism. Mucopolysaccharidoses].

Authors:  E Passarge; U Wendel; W Wöhler; H W Rüdiger
Journal:  Dtsch Med Wochenschr       Date:  1974-01-25       Impact factor: 0.628

Review 2.  The systemic mucopolysaccharidoses.

Authors:  J Spranger
Journal:  Ergeb Inn Med Kinderheilkd       Date:  1972

3.  Limitations of metachromasia as a diagnostic aid in pediatrics.

Authors:  K Taysi; M L Kistenmacher; H H Punnett; W J Mellman
Journal:  N Engl J Med       Date:  1969-11-13       Impact factor: 91.245

4.  The linkage relation of the loci for the Xm serum system and the X-linked form of Hurler's syndrome (Hunter's syndrome).

Authors:  K Berg; B S Danes; A G Bearn
Journal:  Am J Hum Genet       Date:  1968-07       Impact factor: 11.025

5.  Genetic heterogeneity and allelic variation in the mucopolysaccharidoses. Introduction.

Authors: 
Journal:  Johns Hopkins Med J       Date:  1980-02

6.  Clinical heterogeneity in mucopolysaccharidosis. II. Evidence for epistasis.

Authors:  T F Thurmon; E B DeFraites; E E Anderson
Journal:  Birth Defects Orig Artic Ser       Date:  1974

7.  Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form.

Authors:  J R Lichtenstein; G L Bilbrey; V A McKusick
Journal:  Johns Hopkins Med J       Date:  1972-12

8.  Detection of hunter heterozygotes by enzymatic analysis of hair roots.

Authors:  N Nwokoro; E F Neufeld
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

9.  Mild and severe Hunter syndrome (MPS II) within the same sibships.

Authors:  S Yatziv; R P Erickson; C J Epstein
Journal:  Clin Genet       Date:  1977-05       Impact factor: 4.438

10.  Hurler's syndrome. A genetic study in cell culture.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1966-01-01       Impact factor: 14.307
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  21 in total

1.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

2.  Segregation and sporadic cases in families with Hunter's syndrome.

Authors:  G Machill; G Barbujani; G A Danieli; F H Herrmann
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  Hunter syndrome: prenatal diagnosis in maternal serum.

Authors:  J Zlotogora; G Bach
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

4.  Long-term follow-up following bone marrow transplantation for Hunter disease.

Authors:  A Vellodi; E Young; A Cooper; V Lidchi; B Winchester; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

5.  Sanfilippo syndrome.

Authors:  K S Devi; P Veerraju; B S Rao
Journal:  Indian J Pediatr       Date:  1993 Jul-Aug       Impact factor: 1.967

6.  A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

Authors:  Yo Kyung Chung; Young Bae Sohn; Jong Mun Sohn; Jieun Lee; Mi Sun Chang; Younghee Kwun; Chi Hwa Kim; Jin Young Lee; Yeon Joo Yook; Ah-Ra Ko; Dong-Kyu Jin
Journal:  Glycoconj J       Date:  2014-04-30       Impact factor: 2.916

Review 7.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

8.  Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

Authors:  P L Crotty; C B Whitley
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

9.  Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  P Li; A B Bellows; J N Thompson
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

10.  Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Authors:  Christina Lampe; Andrea Atherton; Barbara K Burton; Maria Descartes; Roberto Giugliani; Dafne D G Horovitz; Sandra O Kyosen; Tatiana S P C Magalhães; Ana Maria Martins; Nancy J Mendelsohn; Joseph Muenzer; Laurie D Smith
Journal:  JIMD Rep       Date:  2014-02-11
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