Literature DB >> 11493716

Refsum's disease.

A J Wills1, N J Manning, M M Reilly.   

Abstract

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Year:  2001        PMID： 11493716     DOI： 10.1093/qjmed/94.8.403

Source DB:  PubMed          Journal:  QJM        ISSN： 1460-2393


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  12 in total

1.  Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency.

Authors:  Sian A Thompson; Jacqui Calvin; Sarah Hogg; Sacha Ferdinandusse; Ronald J A Wanders; Roger A Barker
Journal:  BMJ Case Rep       Date:  2009-02-02

2.  Infantile Refsum disease: serial evaluation with MRI.

Authors:  Sinan Cakirer; Mahmut R Savas
Journal:  Pediatr Radiol       Date:  2004-10-06

Review 3.  Peripheral neuropathy and inborn errors of metabolism in adults.

Authors:  F Sedel; C Barnerias; O Dubourg; I Desguerres; O Lyon-Caen; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2007-09-21       Impact factor: 4.982

4.  Diet in dermatology: present perspectives.

Authors:  K H Basavaraj; C Seemanthini; R Rashmi
Journal:  Indian J Dermatol       Date:  2010 Jul-Sep       Impact factor: 1.494

5.  Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.

Authors:  Nimalie J Perera; Barry Lewis; Huy Tran; Michael Fietz; David R Sullivan
Journal:  J Obes       Date:  2010-09-01

Review 6.  Syndromes of hearing loss associated with visual loss.

Authors:  Kamal Ahmed Abou-Elhamd; Hesham Mohamed ElToukhy; Fahad Abdullah Al-Wadaani
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-30       Impact factor: 2.503

7.  Infantile refsum disease: case report.

Authors:  Vaishali Choksi; Ellen Hoeffner; Ercan Karaarslan; Cengiz Yalcinkaya; Sinan Cakirer
Journal:  AJNR Am J Neuroradiol       Date:  2003 Nov-Dec       Impact factor: 3.825

8.  Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Authors:  Sacha Ferdinandusse; Anna W M Zomer; Jasper C Komen; Christina E van den Brink; Melissa Thanos; Frank P T Hamers; Ronald J A Wanders; Paul T van der Saag; Bwee Tien Poll-The; Pedro Brites
Journal:  Proc Natl Acad Sci U S A       Date:  2008-11-11       Impact factor: 11.205

9.  Retinal dystrophies: A look beyond the eyes.

Authors:  Vincent Duong Tang; Alena Egense; Glenn Yiu; Elijah Meyers; Ala Moshiri; Suma P Shankar
Journal:  Am J Ophthalmol Case Rep       Date:  2022-06-11

Review 10.  Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Authors:  Antonino Lupica; Vincenzo Di Stefano; Andrea Gagliardo; Salvatore Iacono; Antonia Pignolo; Salvatore Ferlisi; Angelo Torrente; Sonia Pagano; Massimo Gangitano; Filippo Brighina
Journal:  Brain Sci       Date:  2021-03-21
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