Literature DB >> 10896310

Characteristic urine organic acid profile in peroxisomal biogenesis disorders.

S H Korman1, H Mandel, A Gutman.   

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Year:  2000        PMID： 10896310     DOI： 10.1023/a:1005624523611

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


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  9 in total

1.  Epoxy acids in peroxisomal disorders.

Authors:  O Stokke; E Jellum; E A Kvittingen; O Skjeldal; G Hvistendahl
Journal:  Scand J Clin Lab Invest       Date:  1986-02       Impact factor: 1.713

Review 2.  Biochemistry of peroxisomes in health and disease.

Authors:  I Singh
Journal:  Mol Cell Biochem       Date:  1997-02       Impact factor: 3.396

3.  Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome. Importance of peroxisomes in beta-oxidation of dicarboxylic acids.

Authors:  I Björkhem; S Blomstrand; P Hågå; B F Kase; E Palonek; J I Pedersen; B Strandvik; S A Wikström
Journal:  Biochim Biophys Acta       Date:  1984-08-15

4.  A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis.

Authors:  N Shimizu; S Yamaguchi; T Orii
Journal:  Acta Paediatr Jpn       Date:  1994-04

5.  Azelaic and pimelic acids: metabolic intermediates or artefacts?

Authors:  M J Bennett; M C Ragni; I Hood; D E Hale
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy.

Authors:  F Rocchiccioli; P Aubourg; P F Bougnères
Journal:  Pediatr Res       Date:  1986-01       Impact factor: 3.756

7.  Excretion of 3,6-epoxydicarboxylic acids in peroxisomal disorders.

Authors:  J J Pitt; A Poulos
Journal:  Clin Chim Acta       Date:  1993-12-31       Impact factor: 3.786

8.  Clinical approach to inherited peroxisomal disorders: a series of 27 patients.

Authors:  M R Baumgartner; B T Poll-The; N M Verhoeven; C Jakobs; M Espeel; F Roels; D Rabier; T Levade; M O Rolland; M Martinez; R J Wanders; J M Saudubray
Journal:  Ann Neurol       Date:  1998-11       Impact factor: 10.422

9.  Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome.

Authors:  F Rocchiccioli; P H Cartier; P Aubourg; P F Bougnères
Journal:  Biomed Environ Mass Spectrom       Date:  1986-06
  9 in total
  5 in total

1.  A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

Authors:  Avraham Zeharia; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H Korman
Journal:  J Hum Genet       Date:  2007-05-30       Impact factor: 3.172

2.  Compartmentation of Metabolism of the C12-, C9-, and C5-n-dicarboxylates in Rat Liver, Investigated by Mass Isotopomer Analysis: ANAPLEROSIS FROM DODECANEDIOATE.

Authors:  Zhicheng Jin; Fang Bian; Kristyen Tomcik; Joanne K Kelleher; Guo-Fang Zhang; Henri Brunengraber
Journal:  J Biol Chem       Date:  2015-06-12       Impact factor: 5.157

3.  A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Authors:  Annick Raas-Rothschild; Ronald J A Wanders; Petra A W Mooijer; Jeannette Gootjes; Hans R Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H Korman
Journal:  Am J Hum Genet       Date:  2002-02-28       Impact factor: 11.025

4.  Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides.

Authors:  A Muth; A Mosandl; R J A Wanders; M J M Nowaczyk; I Baric; H Böhles; A C Sewell
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Serum metabolic fingerprinting of psoriasis and psoriatic arthritis patients using solid-phase microextraction-liquid chromatography-high-resolution mass spectrometry.

Authors:  Nikita Looby; Anna Roszkowska; Nathaly Reyes-Garcés; Miao Yu; Tomasz Bączek; Vathany Kulasingam; Janusz Pawliszyn; Vinod Chandran
Journal:  Metabolomics       Date:  2021-06-16       Impact factor: 4.290
  5 in total

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