Literature DB >> 13306748

Heritable disorders of connective tissue. VII. The Hurler syndrome.

V A MCKUSICK.   

Abstract

Entities:  

Keywords:  LIPOCHONDRODYSTROPHY

Mesh：

Year:  1956        PMID： 13306748     DOI： 10.1016/0021-9681(56)90138-2

Source DB:  PubMed          Journal:  J Chronic Dis        ISSN： 0021-9681


× No keyword cloud information.
  10 in total

1.  Gargoylism.

Authors:  R S DAYAL; B LAHIRI; P K HALDAR; U KEHAR; R PRASAD; G P MATHUR; P N WAHI
Journal:  Indian J Pediatr       Date:  1962-03       Impact factor: 1.967

2.  Gargoylism. Report of four cases with a brief review.

Authors:  S S MANCHANDA
Journal:  Indian J Pediatr       Date:  1960-08       Impact factor: 1.967

3.  Gargolyism: clinical, radiological and haematological features in two siblings.

Authors:  S B GRIFFITHS; M FINDLAY
Journal:  Arch Dis Child       Date:  1958-06       Impact factor: 3.791

4.  Bibliography of human genetics.

Authors:  R H POST
Journal:  Am J Hum Genet       Date:  1957-12       Impact factor: 11.025

5.  OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

Authors:  A Dorfman; A E Lorincz
Journal:  Proc Natl Acad Sci U S A       Date:  1957-06-15       Impact factor: 11.205

6.  [Histopathology & histochemistry of the Hurler-Pfaundier disease (gargoylism)].

Authors:  A MATTYUS; C JOBST
Journal:  Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr       Date:  1959

Review 7.  Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

Authors:  Elizabeth A Braunlin; Paul R Harmatz; Maurizio Scarpa; Beatriz Furlanetto; Christoph Kampmann; James P Loehr; Katherine P Ponder; William C Roberts; Howard M Rosenfeld; Roberto Giugliani
Journal:  J Inherit Metab Dis       Date:  2011-07-09       Impact factor: 4.982

8.  Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.

Authors:  Cheng-Yung Lin; Hsiang-Yu Lin; Chih-Kuang Chuang; Po-Hsiang Zhang; Yuan-Rong Tu; Shuan-Pei Lin; Huai-Jen Tsai
Journal:  J Pers Med       Date:  2022-07-23

9.  Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors:  Sonja A Rasmussen; Ariel Pomputius; Joanna S Amberger; Ada Hamosh
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802

10.  Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.

Authors:  Chihwa Kim; Min Jung Kwak; Sung Yoon Cho; Ah-Ra Ko; Jinguen Rheey; Jeong-Yi Kwon; Yokyung Chung; Dong-Kyu Jin
Journal:  Orphanet J Rare Dis       Date:  2015-09-25       Impact factor: 4.123
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.