Literature DB >> 8793927

Clinical and biochemical manifestations of hyaluronidase deficiency.

M R Natowicz1, M P Short, Y Wang, G R Dickersin, M C Gebhardt, D I Rosenthal, K B Sims, A E Rosenberg.   

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Year:  1996        PMID： 8793927     DOI： 10.1056/NEJM199610033351405

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


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  40 in total

Review 1.  Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.

Authors:  J Spranger
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

2.  Synovium, synergy and serendipity.

Authors:  Gregory M Pastores
Journal:  J Inherit Metab Dis       Date:  2011-10       Impact factor: 4.982

Review 3.  Immunologic roles of hyaluronan.

Authors:  Mark E Mummert
Journal:  Immunol Res       Date:  2005       Impact factor: 2.829

4.  Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.

Authors:  B Triggs-Raine; T J Salo; H Zhang; B A Wicklow; M R Natowicz
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

5.  Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.

Authors:  Ertugrul Kiykim; Kenan Barut; Mehmet Serif Cansever; Cigdem Aktuglu Zeybek; Tanyel Zubarioglu; Ahmet Aydin; Ozgur Kasapcopur
Journal:  JIMD Rep       Date:  2015-06-30

6.  Hyaluronan digestion controls DC migration from the skin.

Authors:  Jun Muto; Yasuhide Morioka; Kenshi Yamasaki; Margaret Kim; Andrea Garcia; Aaron F Carlin; Ajit Varki; Richard L Gallo
Journal:  J Clin Invest       Date:  2014-03       Impact factor: 14.808

7.  Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.

Authors:  Lara Gushulak; Richard Hemming; Dianna Martin; Volkan Seyrantepe; Alexey Pshezhetsky; Barbara Triggs-Raine
Journal:  J Biol Chem       Date:  2012-03-26       Impact factor: 5.157

8.  A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.

Authors:  Lisa Imundo; Charles A Leduc; Saurav Guha; Marc Brown; Giorgio Perino; Lara Gushulak; Barbara Triggs-Raine; Wendy K Chung
Journal:  J Inherit Metab Dis       Date:  2011-05-11       Impact factor: 4.982

Review 9.  Hyaluronan: genetic insights into the complex biology of a simple polysaccharide.

Authors:  John A McDonald; Todd D Camenisch
Journal:  Glycoconj J       Date:  2002 May-Jun       Impact factor: 2.916

Review 10.  Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism.

Authors:  Barbara Triggs-Raine; Marvin R Natowicz
Journal:  World J Biol Chem       Date:  2015-08-26
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