搜索页_+infantile+Refsum+disease

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在“Elsevier电子期刊”中，命中：22条，耗时：0.0669367 秒

在所有数据库中总计命中：32条

1.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

关键词：AAV ; adeno-associated virus ; AED ; anti-epileptic drug(s) ; DHA ; docosahexaenoic acid ; DHCA ; dihydroxycholestanoic acid ; ERG ; electroretinogram ; G-tube ; gastrostomy tube ; IRD ; infantile Refsum disease ; LC-MS/MS ; liquid chromatography/tandem mass spectrometry ; NALD ; neonatal adrenoleukodystrophy ; OCT ; optical coherence tomography ; PBD ; peroxisome biogenesis disorder ; PBD-ZSD ; peroxisome biogenesis disorder-Zellweger spectrum disorder ; THCA ; trihydroxycholestanoic acid ; VLCFA ; very long chain fatty

刊名：Molecular Genetics and Metabolism

出版年：2016

2.The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder

作者：Shandi Hiebler^a ; ¹ ; Tomohiro Masuda^b ; ¹ ; Joseph G. Hacia^c ; Ann B. Moser^a ; ^d ; Phyllis L. Faust^e ; Anita Liu^a ; Nivedita Chowdhury^a ; Ning Huang^c ; Amanda Lauer^f ; Jean Bennett^g ; Paul A. Watkins^a ; ^d ; Donald J. Zack^b ; ^h ; ⁱ ; ^j ; ^k ; Nancy E. Braverman^l ; ^m ; Gerald V. Raymond^a ; ^d ; ² ; Steven J. Steinberg^a ; ^d ; ^h ; ^{ssteinb8@jhmi.edu" class="auth_mail}

关键词：ABR ; auditory brainstem response ; C26 ; 0-LPC ; C26 ; 0-lysophosphatidylethanolamine ; DHCA ; dihydroxycholestanoic acid ; DMSO ; dimethylsulfoxide ; ERG ; electroretinogram ; FBS-EMEM ; fetal bovine serum-Eagle's minimum essential media ; h ; hour ; IRD ; infantile Refsum disease ; LC&ndash ; MS/MS ; liquid chromatography tandem mass spectrometry ; NALD ; neonatal adrenoleukodystrophy ; PE ; phosphatidylethanolamine ; PEX ; peroxins ; PEX1-G843D ; human PEX1 mutation c.2528G> ; A (p. G843D) ; Pex1-G844D ; murine Pex1 mutatio

刊名：Molecular Genetics and Metabolism

出版年：April, 2014

3.Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene

作者：Shuji Matsui ; Masuko Funahashi ; Ayako Honda ; Nobuyuki Shimozawa

关键词：Infantile Refsum disease ; Mosaicism ; Leukodystrophy ; Peripheral neuropathy ; Hearing impairment

刊名：Brain and Development

出版年：2013

4.P07.15 The Role of Advanced Neuroimaging in Infantile Refsum Disease

作者：G. Haliloglu ; K.K. Oguz ; M. Kilic ; T. Coskun ; A. Tokatli ; R. Wanders ; F.M. Sonmez ; M. Topcu

刊名：European Journal of Paediatric Neurology

出版年：2011

5.P07.15 The Role of Advanced Neuroimaging in Infantile Refsum Disease

作者：G. Haliloglu ; K.K. Oguz ; M. Kilic ; T. Coskun ; A. Tokatli ; R. Wanders ; F.M. Sonmez ; M. Topcu

刊名：European Journal of Paediatric Neurology

出版年：2011

6.The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

作者：Isabelle Audo ; Anthony G. Robson ; Graham E. Holder ; Anthony T. Moore

关键词：autosomal dominant neovascular inflammatory vitreoretinopathy ; congenital stationary night blindness ; Duchenne-Becker muscular dystrophy ; infantile Refsum disease ; juvenile Batten disease ; juvenile retinoschisis ; melanoma-associated retinopathy ; methonal

刊名：Survey of Ophthalmology

出版年：2008

7.Urine acylcarnitine analysis by ESI–MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders

作者：Guglielmo Duranti ; Sara Boenzi ; Cristiano Rizzo ; Lucilla Ravà ; Vincenzo Di Ciommo ; Rosalba Carrozzo ; Maria Chiara Meschini ; David W. Johnson ; Carlo Dionisi-Vici

关键词：Peroxisomal biogenesis disorders ; Zellweger syndrome ; Infantile Refsum disease ; Tandem mass spectrometry ; ESI– ; MS/MS ; Acylcarnitines

刊名：Clinica Chimica Acta

出版年：2008

8.Peroxisome biogenesis disorders

作者：Steven J. Steinberg ; Gabriele Dodt ; Gerald V. Raymond ; Nancy E. Braverman ; Ann B. Moser ; Hugo W. Moser

关键词：Zellweger syndrome ; Neonatal adrenoleukodystrophy ; Infantile refsum disease ; Rhizomelic chondrodysplasia punctata ; PEX

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Cell Research

出版年：2006

9.The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum

作者：Steinberg ; Steven ; Chen ; Li ; Wei ; Liumei ; Moser ; Ann ; Moser ; Hugo ; Cutting ; Garry ; Braverman ; Nancy

关键词：PEX1 ; PEX2 ; PEX6 ; PEX26 ; PEX12 ; PEX10 ; Peroxisome biogenesis disorder ; Zellweger syndrome ; Neonatal adrenoleukodystrophy ; Infantile Refsum disease

刊名：Molecular Genetics and Metabolism

出版年：2004

10.Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders

作者：Tatsumi ; K. ; Saito ; M. ; Lin ; B. ; Iwamori ; M. ; Ichiseki ; H. ; Shimozawa ; N. ; Kamoshita ; S. ; Igarashi ; T. ; et. al.

关键词：Zellweger syndrome ; Infantile Refsum disease ; Ganglioside ; Fibroblast ; CMH ; ceramide monohexoside ; Glcβ ; 1-1&prime ; Cer ; CDH ; ceramide dihexoside ; Galβ ; 1-4Glcβ ; 1-1&prime ; Cer ; CTH ; ceramide trihexoside ; Galα ; 1-4Galβ ; 1-4Glcβ ; 1-1&prime

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2001

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