Literature DB >> 762621

A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.

C Nezelof, M C Dupart, F Jaubert, E Eliachar.   

Abstract

Entities:  

Mesh:

Year:  1979        PMID: 762621     DOI: 10.1016/s0022-3476(79)80839-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  13 in total

Review 1.  The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Authors:  Shanna L Bowman; Jing Bi-Karchin; Linh Le; Michael S Marks
Journal:  Traffic       Date:  2019-06       Impact factor: 6.215

2.  Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis.

Authors:  Binggang Xiang; Guoying Zhang; Shaojing Ye; Rui Zhang; Cai Huang; Jun Liu; Min Tao; Changgeng Ruan; Susan S Smyth; Sidney W Whiteheart; Zhenyu Li
Journal:  Circulation       Date:  2015-09-23       Impact factor: 29.690

3.  Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome.

Authors:  J M Saraiva; H C Mota
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

Review 4.  Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

Authors:  S P Horslen; O W Quarrell; M S Tanner
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

Review 5.  Genetics of familial intrahepatic cholestasis syndromes.

Authors:  S W C van Mil; R H J Houwen; L W J Klomp
Journal:  J Med Genet       Date:  2005-06       Impact factor: 6.318

6.  Current Strategies in Diagnosis of Inherited Storage Pool Defects.

Authors:  Kirstin Sandrock; Barbara Zieger
Journal:  Transfus Med Hemother       Date:  2010-09-15       Impact factor: 3.747

Review 7.  Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

Authors:  M Di Rocco; F Callea; B Pollice; M Faraci; F Campiani; C Borrone
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

Review 8.  Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Authors:  Ebru Arhan; Arzu Meltem Yusufoğlu; Tülin Revide Sayli
Journal:  Eur J Pediatr       Date:  2008-10-30       Impact factor: 3.183

9.  An Acadian variant of Fanconi syndrome.

Authors:  Philip Wornell; John Crocker; Andrew Wade; Jason Dixon; Philip Acott
Journal:  Pediatr Nephrol       Date:  2007-08-10       Impact factor: 3.714

10.  The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.

Authors:  Angela C Weyand; Rebecca M Lombel; Steven W Pipe; Jordan A Shavit
Journal:  Pediatr Blood Cancer       Date:  2015-10-27       Impact factor: 3.167

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.