Literature DB >> 14169466

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

P BOWEN, C S LEE, H ZELLWEGER, R LINDENBERG.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; BRAIN DISEASES; CATARACT; CENTRAL NERVOUS SYSTEM DISEASES; CHONDRODYSTROPHIA CALCIFICANS CONGENITA; CHROMOSOME ABNORMALITIES; CLITORIS; CONTRACTURE; DUCTUS ARTERIOSUS, PATENT; GENETICS, HUMAN; GLAUCOMA; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; JOINT DISEASES; LUNG DISEASES; VASCULAR DISEASES; VENTRAL HERNIA

Mesh：

Year:  1964        PMID： 14169466

Source DB:  PubMed          Journal:  Bull Johns Hopkins Hosp        ISSN： 0097-1383


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  53 in total

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Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.

Authors:  S Yajima; Y Suzuki; N Shimozawa; S Yamaguchi; T Orii; Y Fujiki; T Osumi; T Hashimoto; H W Moser
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

3.  Bowen syndrome: congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities.

Authors:  T Billette de Villemeur; G Bijaoui; P Beauvais; J M Richardet
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

Review 4.  Zellweger syndrome and associated phenotypes.

Authors:  D R FitzPatrick
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

5.  [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

6.  An index of syndromes and their anaesthetic implications.

Authors:  A E Jones; D A Pelton
Journal:  Can Anaesth Soc J       Date:  1976-03

7.  Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome).

Authors:  H M Liu; B S Bangaru; J Kidd; J Boggs
Journal:  Acta Neuropathol       Date:  1976-03-15       Impact factor: 17.088

8.  Congenital Pick cell encephalopathy: a distinct disorder characterized by diffuse formation of Pick cells in the cerebral cortex.

Authors:  G A de León; G Breningstall; N Zaeri
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

9.  Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.

Authors:  B F Kase; I Björkhem; P Hågå; J I Pedersen
Journal:  J Clin Invest       Date:  1985-02       Impact factor: 14.808

10.  Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome.

Authors:  J M Powers; R C Tummons; A B Moser; H W Moser; D S Huff; R I Kelley
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088
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