Literature DB >> 831382

Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies.

N T Henriksen, F Langmark, S J Sorland, O Fausa, S Landaas, O Aagenaes.   

Abstract

A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion ahd blood lipids, peripheral pulmonary stenosis, vertebral anomalies and a characteristic facies is described in six patients, including a father and his daughter. An autosomal dominant mode of inheritance is suggested.

Entities:  

Mesh:

Substances:

Year:  1977        PMID: 831382     DOI: 10.1111/j.1651-2227.1977.tb07801.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  13 in total

1.  Alagille syndrome: family studies.

Authors:  F V Elmslie; A J Vivian; H Gardiner; C Hall; A P Mowat; R M Winter
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 2.  Alagille syndrome.

Authors:  I D Krantz; D A Piccoli; N B Spinner
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 3.  Neonatal obstructive cholangiopathy.

Authors:  D K Bhasin; S Mehta
Journal:  Indian J Pediatr       Date:  1984 Jan-Feb       Impact factor: 1.967

4.  Arteriohepatic dysplasia: a 16-year follow-up during treatment with cholestyramine.

Authors:  A L Flick
Journal:  West J Med       Date:  1982-01

5.  Paucity of interlobular bile ducts: getting to know it better.

Authors:  J Perrault
Journal:  Dig Dis Sci       Date:  1981-06       Impact factor: 3.199

Review 6.  The Alagille syndrome (arteriohepatic dysplasia).

Authors:  R F Mueller
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

7.  Investigation of serum bile acids; seven patients with Alagille syndrome.

Authors:  K Obinata; N Nakatsu; T Watanabe; S Niijima; O Arisaka; H Sasaki; H Nittono; K Yabuta; T Miyano
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

8.  Cholestatic jaundice in infancy. The importance of familial and genetic factors in aetiology and prognosis.

Authors:  N T Henriksen; P A Drabløs; O Aagenaes
Journal:  Arch Dis Child       Date:  1981-08       Impact factor: 3.791

9.  Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Authors:  Shuang Cui; Melissa Leyva-Vega; Ellen A Tsai; Steven F EauClaire; Joseph T Glessner; Hakon Hakonarson; Marcella Devoto; Barbara A Haber; Nancy B Spinner; Randolph P Matthews
Journal:  Gastroenterology       Date:  2013-01-18       Impact factor: 22.682

10.  Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia).

Authors:  R Habib; J P Dommergues; M C Gubler; M Hadchouel; M Gautier; M Odievre; D Alagille
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.