Literature DB >> 3550671

Computerized tomography and ultrasound in the diagnosis of cerebro-hepato-renal syndrome of Zellweger.

D E Weese-Mayer, K M Smith, J K Reddy, I Salafsky, A K Poznanski.   

Abstract

Renal cortical cysts were demonstrated by computerized tomography and ultrasound in a patient with cerebro-hepato-renal syndrome who did not have patellar calcifications.

Entities:  

Mesh：

Year:  1987        PMID： 3550671     DOI： 10.1007/BF02388104

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  8 in total

1.  A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

Authors:  P BOWEN; C S LEE; H ZELLWEGER; R LINDENBERG
Journal:  Bull Johns Hopkins Hosp       Date:  1964-06

2.  Peroxisomal disorders.

Authors:  H W Moser
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

3.  Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

Authors:  S Goldfischer; C L Moore; A B Johnson; A J Spiro; M P Valsamis; H K Wisniewski; R H Ritch; W T Norton; I Rapin; L M Gartner
Journal:  Science       Date:  1973-10-05       Impact factor: 47.728

4.  The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

Authors:  A E Moser; I Singh; F R Brown; G I Solish; R I Kelley; P J Benke; H W Moser
Journal:  N Engl J Med       Date:  1984-05-03       Impact factor: 91.245

5.  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

6.  Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

Authors:  H S Heymans; R B Schutgens; R Tan; H van den Bosch; P Borst
Journal:  Nature       Date:  1983 Nov 3-9       Impact factor: 49.962

7.  Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

Authors:  N S Datta; G N Wilson; A K Hajra
Journal:  N Engl J Med       Date:  1984-10-25       Impact factor: 91.245

8.  Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies).

Authors:  A K Hajra; C L Burke; C L Jones
Journal:  J Biol Chem       Date:  1979-11-10       Impact factor: 5.157
  8 in total
  4 in total

1.  Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Authors:  Monique Losekoot; Cathleen Haarloo; Claudia Ruivenkamp; Stefan J White; Martijn H Breuning; Dorien J M Peters
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

Review 2.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

3.  Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.

Authors:  Burhan M Edrees; Mohammad Athar; Zainularifeen Abduljaleel; Faisal A Al-Allaf; Mohiuddin M Taher; Wajahatullah Khan; Abdellatif Bouazzaoui; Naffaa Al-Harbi; Ramzia Safar; Howaida Al-Edressi; Khawala Alansary; Abulkareem Anazi; Naji Altayeb; Muawia A Ahmed
Journal:  Genom Data       Date:  2016-11-03

4.  microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism.

Authors:  Sachin Hajarnis; Ronak Lakhia; Matanel Yheskel; Darren Williams; Mehran Sorourian; Xueqing Liu; Karam Aboudehen; Shanrong Zhang; Kara Kersjes; Ryan Galasso; Jian Li; Vivek Kaimal; Steven Lockton; Scott Davis; Andrea Flaten; Joshua A Johnson; William L Holland; Christine M Kusminski; Philipp E Scherer; Peter C Harris; Marie Trudel; Darren P Wallace; Peter Igarashi; Edmund C Lee; John R Androsavich; Vishal Patel
Journal:  Nat Commun       Date:  2017-02-16       Impact factor: 14.919
  4 in total

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