journal article Oct 01, 1995

Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families

View at Publisher Save 10.1007/bf01959793
Topics

No keywords indexed for this article. Browse by subject →

References
8
[1]
Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, Cremonte M, Borrone C (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Am J Med Genet 37:237–240 10.1002/ajmg.1320370214
[3]
Kitamura T, Alroy J, Gatmaitan Z, Inoue M, Mikami T, Jansen P, Arias IM (1992) Defective biliary excretion of epinephrine metabolites in mutant (TR-) rats: relation to the pathogenesis of black liver in the Dubin-Johnson syndrome and in Corriedale sheep with an analogous excretory defect. Hepatology 15:1154–1159 10.1002/hep.1840150629
[4]
Lutz-Richner AR, Landolt RF (1973) Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 28:1–2
[5]
Maggiore G, Bernard O, Hadchonel M, Lemmanier A, Alagille D (1991) Diagnostic value of Serum glutamyl-Gentamyl traspeptidase activity in liver diseases in children. J Pediatr Gastroenterol Nutr 12:21–26 10.1097/00005176-199101000-00005
[6]
Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM (1984) Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies, a new multisystem syndrome. Helv Paediatr Acta 39:463–471
[7]
Nezelof C, Dupart MC, Jaubert F, Eliachar E (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction and a cholestatic and pigmentary liver disease. J Pediatr 94:258–260 10.1016/s0022-3476(79)80839-2
[8]
Saraiva JM, Lemos C, Goncalves I, Carneiro F, Mota HC (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr 117:761–763 10.1016/s0022-3476(05)83339-6
Cited By
35
Metrics
35
Citations
8
References
Details
Published
Oct 01, 1995
Vol/Issue
154(10)
Pages
835-839
License
View
Cite This Article
M. Di Rocco, F. Callea, B. Pollice, et al. (1995). Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families. European Journal of Pediatrics, 154(10), 835-839. https://doi.org/10.1007/bf01959793
Related

You May Also Like

Practical consensus guidelines for the management of enuresis

Johan Vande Walle, Soren Rittig · 2012

183 citations

The burden of seasonal and pandemic influenza in infants and children

Bernhard R. Ruf, Markus Knuf · 2013

158 citations

Presenting phenotype in 100 children with the 22q11 deletion syndrome

S�lveig �skarsd�ttir, Christina Persson · 2004

136 citations

Congenital portosystemic venous shunt

M. Papamichail, M. Pizanias · 2017

135 citations

Dissecting Kawasaki disease: a state-of-the-art review

S. M. Dietz, D. van Stijn · 2017

133 citations