Literature DB >> 7151832

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

L Govaerts, L Monnens, W Tegelaers, F Trijbels, A van Raay-Selten.   

Abstract

The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive. The increase of pipecolic acid in serum and cerebrospinal fluid (CSF), the abnormality of the bile acids and the increased excretion of p-OH-phenyl lactate were a consistent finding. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.

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Year:  1982        PMID： 7151832     DOI： 10.1007/bf00441495

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


  18 in total

1.  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

2.  The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.

Authors:  K W Gilchrist; E F Gilbert; N T Shahidi; J M Opitz
Journal:  Clin Genet       Date:  1975 May-Jun       Impact factor: 4.438

3.  Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.

Authors:  P D Gatfield; E Taller; G G Hinton; A C Wallace; G M Abdelnour; M D Haust
Journal:  Can Med Assoc J       Date:  1968-12-28       Impact factor: 8.262

4.  Conversion of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid into cholic acid by rat liver peroxisomes.

Authors:  J I Pedersen; J Gustafsson
Journal:  FEBS Lett       Date:  1980-12-01       Impact factor: 4.124

5.  Screening for organic acidurias and amino acidopathies in newborns and children.

Authors:  R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

6.  Giant cell transformation cerebrohepatorenal syndrome.

Authors:  B R Carlson; A G Weinberg
Journal:  Arch Pathol Lab Med       Date:  1978-11       Impact factor: 5.534

7.  Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.

Authors:  B K Burton; S P Reed; W T Remy
Journal:  J Pediatr       Date:  1981-11       Impact factor: 4.406

8.  Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome.

Authors:  L Monnens; J Bakkeren; G Parmentier; G Janssen; U van Haelst; F Trijbels; H Eyssen
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

9.  Medium-chain triglyceride medication as a pitfall in the diagnosis of non-ketotic C6-C10-dicarboxylic acidurias.

Authors:  P B Mortensen; N Gregersen
Journal:  Clin Chim Acta       Date:  1980-04-11       Impact factor: 3.786

10.  [Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].

Authors:  J Müller-Höcker; K Bise; W Endres; G Hübner
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1981
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  15 in total

1.  Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Authors:  B T Poll-The; J M Saudubray; H A Ogier; M Odièvre; J M Scotto; L Monnens; L C Govaerts; F Roels; A Cornelis; R B Schutgens
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

Review 2.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

3.  Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders.

Authors:  J L Hughes; A Poulos; E Robertson; C W Chow; L J Sheffield; J Christodoulou; R F Carter
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1990

4.  Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger.

Authors:  L Govaerts; L Monnens; T Melis; F Trijbels
Journal:  Eur J Pediatr       Date:  1984-11       Impact factor: 3.183

5.  Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.

Authors:  H S Heymans; H vd Bosch; R B Schutgens; W H Tegelaers; J U Walther; J Müller-Höcker; P Borst
Journal:  Eur J Pediatr       Date:  1984-04       Impact factor: 3.183

Review 6.  Teratogenic inborn errors of metabolism.

Authors:  J V Leonard
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

7.  Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients.

Authors:  A C Theil; R B Schutgens; R J Wanders; H S Heymans
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

8.  Platelet-activating factor: mediator of the third pathway of platelet aggregation? A study in three patients with deficient platelet-activating factor synthesis.

Authors:  A Sturk; M C Schaap; J W ten Cate; H S Heymans; R B Schutgens; H Przyrembel; P Borst
Journal:  J Clin Invest       Date:  1987-02       Impact factor: 14.808

9.  Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.

Authors:  W W Chen; P A Watkins; T Osumi; T Hashimoto; H W Moser
Journal:  Proc Natl Acad Sci U S A       Date:  1987-03       Impact factor: 11.205

10.  Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.

Authors:  L Govaerts; J Bakkeren; L Monnens; J Maas; F Trijbels; W Kleijer
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
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