ABCD1 MUTATION ANALYSIS IN PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY (X-ALD), ADRENOMYELONEUROPATHY (AMN), CONTIGUOUS ABCD1 DXS1357E DELETION SYNDROME (CADDS) AND OTHER NON-SPECIFIC MENTAL RETARDATION (MR) PHENOTYPES

被引：0

作者：

Steinberg, S. ^{[1
,2
]}

Raymond, G. ^{[1
,2
]}

Schroer, R. ^{[3
]}

Nino, M. ^{[4
]}

Braverman, N. ^{[4
]}

Butler, M. ^{[5
]}

Lund, M. ^{[5
]}

Winter, S. ^{[6
]}

Phalen, J. ^{[6
]}

Kronn, D. ^{[7
]}

DeLozier-Blanchet, C. D. ^{[8
]}

Crowe, C. ^{[9
]}

Kemp, S. ^{[10
]}

Waterham, H. ^{[10
]}

van Geel, B. ^{[10
]}

Watkins, P. ^{[1
,2
]}

Moser, A. ^{[1
,2
]}

Moser, H. ^{[1
,2
]}

Karczeski, B. ^{[4
]}

Katsanis, S. ^{[4
]}

Cutting, G. ^{[4
]}

机构：

[1] Kennedy Krieger Inst, Balto, MD USA

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Balto, MD USA

[3] Greenwood Genet Ctr, Greensborro, SC USA

[4] Inst Med Genet, JHUSOM, Balto, MD USA

[5] Childrens Mercy Hosp, Kansas City, MO 64108 USA

[6] Valley Childrens Hosp, Madera, CA USA

[7] Westchester Cty Med Ctr, Valhalla, NY 10595 USA

[8] Hop Univ Geneve, Geneva, Switzerland

[9] Metro Hlth Med Ctr, Cleveland, OH USA

[10] Univ Amsterdam, Acad Med Ctr, NL-1012 WX Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：144 / 144

页数：1

共 8 条

[1] Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case
Iwasa, Mitsuaki
Yamagata, Takanori
Mizuguchi, Masashi
Itoh, Masayuki
Matsumoto, Ayumi
Hironaka, Mitsugu
Honda, Ayako
Momoi, Mariko Y.
Shimozawa, Nobuyuki
NEUROPATHOLOGY, 2013, 33 (03) : 292 - 298
[2] Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E:: A novel neonatal phenotype similar to peroxisomal biogenesis disorders
Corzo, D
Gibson, W
Johnson, K
Mitchell, G
LePage, G
Cox, GF
Casey, R
Zeiss, C
Tyson, H
Cutting, GR
Raymond, GV
Smith, KD
Watkins, PA
Moser, AB
Moser, HW
Steinberg, SJ
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) : 1520 - 1531
[3] MUTATION SPECTRUM OF ABCD1 IN 20 VIETNAMESE PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY
Nguyen, Khanh N.
Dung Chi Vu
Nguyen, Ha T.
Bui, Thao P.
Can, Ngoc T. B.
Nguyen, Dat P.
Le, Hai T.
Vu Anh Hoang
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HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 68 - 68
[4] Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy
Shukla, Pallavi
Gupta, Neerja
Gulati, Sheffali
Ghosh, Manju
Vasisht, Suman
Sharma, Raju
Gupta, Arun K.
Kalra, Veena
Kabra, Madhulika
CLINICA CHIMICA ACTA, 2011, 412 (23-24) : 2289 - 2295
[5] Molecular analysis of ABCD1 gene in moroccan patients with X-linked adrenoleukodystrophy
Benjelloun, F. Z. Madani
Kriouile, Y.
Cheillan, D.
Chabraoui, L.
CLINICA CHIMICA ACTA, 2024, 558
[6] X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
Anabel Amorosi, Cyntia
Myskova, Helena
Roxana Monti, Mariela
Enrique Argarana, Carlos
Morita, Masashi
Kemp, Stephan
Dodelson de Kremer, Raquel
Dvorakova, Lenka
Oller de Ramirez, Ana Maria
PLOS ONE, 2012, 7 (12):
[7] Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
Takashi Matsukawa
Muriel Asheuer
Yuji Takahashi
Jun Goto
Yasuyuki Suzuki
Nobuyuki Shimozawa
Hiroki Takano
Osamu Onodera
Masatoyo Nishizawa
Patrick Aubourg
Shoji Tsuji
neurogenetics, 2011, 12 : 41 - 50
[8] Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
Matsukawa, Takashi
Asheuer, Muriel
Takahashi, Yuji
Goto, Jun
Suzuki, Yasuyuki
Shimozawa, Nobuyuki
Takano, Hiroki
Onodera, Osamu
Nishizawa, Masatoyo
Aubourg, Patrick
Tsuji, Shoji
NEUROGENETICS, 2011, 12 (01) : 41 - 50

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