Literature DB >> 3141699

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.

R J Wanders1, C W van Roermund, M J van Wijland, R B Schutgens, J M Tager, H van den Bosch, G H Thomas.   

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Year:  1988        PMID： 3141699     DOI： 10.1007/bf01804225

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 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.  Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

Authors:  R J Wanders; D Saelman; H S Heymans; R B Schutgens; A Westerveld; B T Poll-Thé; J M Saudubray; H Van den Bosch; A Strijland; A W Schram
Journal:  N Engl J Med       Date:  1986-03-20       Impact factor: 91.245

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

Review 4.  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

5.  Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.

Authors:  G H Thomas; R H Haslam; M L Batshaw; A J Capute; L Neidengard; J L Ransom
Journal:  Clin Genet       Date:  1975-11       Impact factor: 4.438

6.  Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.

Authors:  R J Wanders; M J van Wijland; C W van Roermund; R B Schutgens; H van den Bosch; J M Tager; A Nijenhuis; A Tromp
Journal:  Clin Chim Acta       Date:  1987-06-15       Impact factor: 3.786

7.  Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts.

Authors:  R J Wanders; R B Schutgens; G Schrakamp; J M Tager; H Van den Bosch; A B Moser; H W Moser
Journal:  J Neurol Sci       Date:  1987-02       Impact factor: 3.181

8.  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

Review 9.  New approaches in peroxisomal disorders.

Authors:  H W Moser
Journal:  Dev Neurosci       Date:  1987       Impact factor: 2.984

10.  Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

Authors:  S Brul; A Westerveld; A Strijland; R J Wanders; A W Schram; H S Heymans; R B Schutgens; H van den Bosch; J M Tager
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808
  10 in total
  4 in total

Review 1.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

Review 2.  Diagnostic work-up of a peroxisomal patient.

Authors:  J G Leroy; M Espeel; J F Gadisseux; H Mandel; M Martinez; B T Poll-The; R J Wanders; F Roels
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 3.  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

4.  Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.

Authors:  R A Roesel; J E Carroll; W B Rizzo; T van der Zalm; D A Hahn
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  4 in total

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