Literature DB >> 1248488

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology.

K W Gilchrist, E F Gilbert, S Goldfarb, U Goll, J W Spranger, J M Opitz.   

Abstract

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

Entities:  

Mesh：

Substances：

Year:  1976        PMID： 1248488     DOI： 10.1007/bf00443065

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  26 in total

1.  STUDIES ON NECROSIS OF MOUSE LIVER IN VITRO. ULTRASTRUCTURAL ALTERATIONS IN THE MITOCHONDRIA OF HEPATIC PARENCHYMAL CELLS.

Authors:  B F TRUMP; P J GOLDBLATT; R E STOWELL
Journal:  Lab Invest       Date:  1965-04       Impact factor: 5.662

2.  Involuting and scarred glomeruli in the kidneys of infants.

Authors:  J L EMERY; M S MACDONALD
Journal:  Am J Pathol       Date:  1960-06       Impact factor: 4.307

3.  Use of emission spectrograph for study of inorganic elements in human tissues.

Authors:  E M BUTT; R E NUSBAUM; T C GILMOUR; S L DIDIO
Journal:  Am J Clin Pathol       Date:  1954-04       Impact factor: 2.493

4.  Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.

Authors:  D M Danks; P Tippett; C Adams; P Campbell
Journal:  J Pediatr       Date:  1975-03       Impact factor: 4.406

5.  [Disorders of neuronal migration in Zellwegers cerebrohepato-renal syndrome (author's transl)].

Authors:  F Garzuly; L Szabo; L Kadas
Journal:  Neuropadiatrie       Date:  1974-08

6.  Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst--the concept of infantile obstructive cholangiopathy.

Authors:  B H Landing
Journal:  Prog Pediatr Surg       Date:  1974

7.  Cerebro-hepato-renal syndrome of Zellweger. Two patients with islet cell hyperplasia, hypoglycemia, and thymic anomalies, and comments on iron metabolism.

Authors:  R G Patton; D L Christie; D W Smith; J B Beckwith
Journal:  Am J Dis Child       Date:  1972-12

8.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

9.  Cerebro-hepato-renal syndrome of Zellweger.

Authors:  J E Jan; D F Hardwick; R B Lowry; A Q McCormick
Journal:  Am J Dis Child       Date:  1970-03

10.  The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome).

Authors:  A K Poznanski; J S Nosanchuk; J Baublis; J F Holt
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1970-06
View more
  16 in total

1.  [Light and electron microscopic liver changes in the cerebro-hepato-renal syndrome of Zellweger (Peroxisome deficiency) (author's transl)].

Authors:  U Pfeifer; K Sandhage
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1979-10

2.  Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy).

Authors:  I Kerckaert; K P Dingemans; H S Heymans; J Vamecq; F Roels
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings.

Authors:  A Brun; M Gilboa; G W Meeuwisse; H Nordgren
Journal:  Eur J Pediatr       Date:  1978-04-20       Impact factor: 3.183

4.  Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.

Authors:  P G Barth; R J Wanders; R B Schutgens; E M Bleeker-Wagemakers; D van Heemstra
Journal:  Eur J Pediatr       Date:  1990-07       Impact factor: 3.183

Review 5.  Glomerulocystic kidney disease--nosological considerations.

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

6.  Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.

Authors:  L Govaerts; L Monnens; W Tegelaers; F Trijbels; A van Raay-Selten
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

7.  Autopsy findings in two siblings with infantile Refsum disease.

Authors:  C W Chow; A Poulos; A J Fellenberg; J Christodoulou; D M Danks
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

Review 8.  Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.

Authors:  F Roels; M Espeel; D De Craemer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 9.  Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case.

Authors:  Y Chang; J L Twiss; D S Horoupian; S A Caldwell; K M Johnston
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

10.  Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney.

Authors:  M Espeel; F Roels; L Van Maldergem; D De Craemer; G Dacremont; R J Wanders; T Hashimoto
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.