儿童X连锁肾上腺脑白质营养不良：遗传、临床及磁共振成像特征综述 - Suppr

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X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics.

作者信息

Melhem E R, Barker P B, Raymond G V, Moser H W

机构信息

Department of Radiology and Radiological Sciences, The Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

出版信息

AJR Am J Roentgenol. 1999 Dec;173(6):1575-81. doi: 10.2214/ajr.173.6.10584804.

DOI:10.2214/ajr.173.6.10584804

PMID:10584804

Abstract

摘要

相似文献

X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics.

AJR Am J Roentgenol. 1999 Dec;173(6):1575-81. doi: 10.2214/ajr.173.6.10584804.

Adrenoleukodystrophy.

Curr Opin Neurol. 1995 Jun;8(3):221-6. doi: 10.1097/00019052-199506000-00011.

[X-linked adrenoleukodystrophy (ALD)].

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):315-21.

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Mol Genet Metab. 1999 Feb;66(2):128-36. doi: 10.1006/mgme.1998.2779.

[Cerebral MRT in x chromosome linked adrenoleukodystrophy].

Bildgebung. 1991;58(4):205-7.

The prenatal diagnosis of X-linked adrenoleukodystrophy.

Prenat Diagn. 1999 Jan;19(1):46-8. doi: 10.1002/(sici)1097-0223(199901)19:1<46::aid-pd501>3.0.co;2-e.

Adrenoleukodystrophy and other peroxisomal diseases.

Curr Opin Genet Dev. 1994 Jun;4(3):407-11. doi: 10.1016/0959-437x(94)90029-9.

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149.

X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

J Inherit Metab Dis. 1998 Jun;21(3):285-7. doi: 10.1023/a:1005336726127.

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Nervenarzt. 1998 Feb;69(2):174-9. doi: 10.1007/s001150050257.

引用本文的文献

A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets.

Ann Neurol. 2025 Feb;97(2):296-312. doi: 10.1002/ana.27117. Epub 2024 Oct 28.

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis.

bioRxiv. 2023 Nov 10:2023.11.07.564025. doi: 10.1101/2023.11.07.564025.

[Overview of X-linked adrenoleukodystrophy in Morocco: results of the implementation of the program of clinical and biological diagnosis].

Pan Afr Med J. 2017 Oct 30;28:185. doi: 10.11604/pamj.2017.28.185.11086. eCollection 2017.

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging.

J Pediatr Neurosci. 2013 Sep;8(3):192-7. doi: 10.4103/1817-1745.123661.

Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation.

AJNR Am J Neuroradiol. 2013 Mar;34(3):641-9. doi: 10.3174/ajnr.A3232. Epub 2012 Aug 16.

Clinical profile of adrenoleukodysrophy.

Indian J Pediatr. 2009 Oct;76(10):1045-7. doi: 10.1007/s12098-009-0220-0. Epub 2009 Nov 12.

Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.

Ann N Y Acad Sci. 2008 Oct;1142:266-309. doi: 10.1196/annals.1444.017.

T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging.

AJNR Am J Neuroradiol. 2001 Apr;22(4):773-6.

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X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics.

作者信息

Melhem E R, Barker P B, Raymond G V, Moser H W

机构信息

Department of Radiology and Radiological Sciences, The Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

出版信息

AJR Am J Roentgenol. 1999 Dec;173(6):1575-81. doi: 10.2214/ajr.173.6.10584804.

DOI:10.2214/ajr.173.6.10584804

PMID:10584804

Abstract

摘要

相似文献

X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics.

AJR Am J Roentgenol. 1999 Dec;173(6):1575-81. doi: 10.2214/ajr.173.6.10584804.

Adrenoleukodystrophy.

Curr Opin Neurol. 1995 Jun;8(3):221-6. doi: 10.1097/00019052-199506000-00011.

[X-linked adrenoleukodystrophy (ALD)].

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):315-21.

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Mol Genet Metab. 1999 Feb;66(2):128-36. doi: 10.1006/mgme.1998.2779.

[Cerebral MRT in x chromosome linked adrenoleukodystrophy].

Bildgebung. 1991;58(4):205-7.

The prenatal diagnosis of X-linked adrenoleukodystrophy.

Prenat Diagn. 1999 Jan;19(1):46-8. doi: 10.1002/(sici)1097-0223(199901)19:1<46::aid-pd501>3.0.co;2-e.

Adrenoleukodystrophy and other peroxisomal diseases.

Curr Opin Genet Dev. 1994 Jun;4(3):407-11. doi: 10.1016/0959-437x(94)90029-9.

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149.

X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

J Inherit Metab Dis. 1998 Jun;21(3):285-7. doi: 10.1023/a:1005336726127.

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Nervenarzt. 1998 Feb;69(2):174-9. doi: 10.1007/s001150050257.

引用本文的文献

A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets.

Ann Neurol. 2025 Feb;97(2):296-312. doi: 10.1002/ana.27117. Epub 2024 Oct 28.

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis.

bioRxiv. 2023 Nov 10:2023.11.07.564025. doi: 10.1101/2023.11.07.564025.

[Overview of X-linked adrenoleukodystrophy in Morocco: results of the implementation of the program of clinical and biological diagnosis].

Pan Afr Med J. 2017 Oct 30;28:185. doi: 10.11604/pamj.2017.28.185.11086. eCollection 2017.

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging.

J Pediatr Neurosci. 2013 Sep;8(3):192-7. doi: 10.4103/1817-1745.123661.

Childhood cerebral X-linked adrenoleukodystrophy: diffusion tensor imaging measurements for prediction of clinical outcome after hematopoietic stem cell transplantation.

AJNR Am J Neuroradiol. 2013 Mar;34(3):641-9. doi: 10.3174/ajnr.A3232. Epub 2012 Aug 16.

Clinical profile of adrenoleukodysrophy.

Indian J Pediatr. 2009 Oct;76(10):1045-7. doi: 10.1007/s12098-009-0220-0. Epub 2009 Nov 12.

Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.

Ann N Y Acad Sci. 2008 Oct;1142:266-309. doi: 10.1196/annals.1444.017.

T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging.

AJNR Am J Neuroradiol. 2001 Apr;22(4):773-6.