Literature DB >> 8608580

Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings.

S M Pueschel1, C E Oyer.   

Abstract

An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropathological aspects are highlighted and the underlying biochemical derangements discussed. In addition, some of the known pathogenetic mechanisms that are involved in producing the phenotype of Zellweger syndrome are analyzed.

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Mesh：

Year:  1995        PMID： 8608580     DOI： 10.1007/bf00300721

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


  12 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.  A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive.

Authors:  H H Punnett; J A Kirkpatrick
Journal:  J Pediatr       Date:  1968-10       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.  A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

Authors:  D W Smith; J M Opitz; S L Inhorn
Journal:  J Pediatr       Date:  1965-10       Impact factor: 4.406

5.  The peroxisomal disorders.

Authors:  H W Moser; S L Goldfischer
Journal:  Hosp Pract (Off Ed)       Date:  1985-09-15

Review 6.  The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders.

Authors:  H Zellweger
Journal:  Dev Med Child Neurol       Date:  1987-12       Impact factor: 5.449

Review 7.  Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.

Authors:  R I Kelley
Journal:  Am J Med Genet       Date:  1983-12

8.  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

9.  Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

Authors:  G N Wilson; R G Holmes; J Custer; J L Lipkowitz; J Stover; N Datta; A Hajra
Journal:  Am J Med Genet       Date:  1986-05

10.  Pregnancy-induced hypertension and congenital adrenal hypoplasia.

Authors:  W Brown; D B Singer
Journal:  Obstet Gynecol       Date:  1988-08       Impact factor: 7.661
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