Literature DB >> 15065573

Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.

M A Kurian1, S Ryan, G T N Besley, R J A Wanders, M D King.   

Abstract

We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.

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Year:  2004        PMID： 15065573     DOI： 10.1023/b:boli.0000016687.88818.6d

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


  6 in total

Review 1.  Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.

Authors:  Rachayeeta Deb; Neha Joshi; Shirisha Nagotu
Journal:  Neurotox Res       Date:  2021-01-05       Impact factor: 3.911

2.  Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Authors:  Raymond Y Wang; Edwin S Monuki; James Powers; Phillip H Schwartz; Paul A Watkins; Yang Shi; Ann Moser; David A Shrier; Hans R Waterham; Diane J Nugent; Jose E Abdenur
Journal:  J Inherit Metab Dis       Date:  2014-03-12       Impact factor: 4.982

Review 3.  The Role of Lipidomics in Autism Spectrum Disorder.

Authors:  Afaf El-Ansary; Salvatore Chirumbolo; Ramesa Shafi Bhat; Maryam Dadar; Eiman M Ibrahim; Geir Bjørklund
Journal:  Mol Diagn Ther       Date:  2020-02       Impact factor: 4.074

4.  Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Authors:  Veronica Arora; Sunita Bijarnia-Mahay; Sudhisha Dubey; Renu Saxena
Journal:  Mol Syndromol       Date:  2020-09-30

5.  Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder.

Authors:  Cheshta Arora; Hansashree Padmanabha; Rita Christopher; Rohan Mahale; Maya Bhat; Gautham Arunachal; Ravi Shekhar; Pooja Mailankody; P S Mathuranath
Journal:  Ann Indian Acad Neurol       Date:  2021-10-11       Impact factor: 1.714

Review 6.  Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.

Authors:  Chuck T Chen; Zhuo Shao; Zhongjie Fu
Journal:  Front Cell Dev Biol       Date:  2022-09-07
  6 in total

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