Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant A harbinger of GM1 gangliosidosis

被引：7

作者：

Armstrong-Javors, Amy ^{[1
]}

Chu, Catherine J.

机构：

[1] Massachusetts Gen Hosp, Dept Neurol, Div Child Neurol, Boston, MA 02114 USA

来源：

NEUROLOGY | 2014年 / 83卷 / 17期

关键词：

GM1-GANGLIOSIDOSIS; DISEASE;

D O I：

10.1212/WNL.0000000000000912

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：E166 / E168

页数：3

共 11 条

[1] Dermal melanocytosis associated with GM1-gangliosidosis type 1 [J].

Bloch, LD ;

Matsumoto, FY ;

Belda, W ;

Giugliani, R ;

Menezes, LF ;

Kim, CA ;

Machado, MCDM .

ACTA DERMATO-VENEREOLOGICA, 2006, 86 (02) :156-158

[2] GM1 gangliosidosis:: Review of clinical, molecular, and therapeutic aspects [J].

Brunetti-Pierri, Nicola ;

Scaglia, Fernando .

MOLECULAR GENETICS AND METABOLISM, 2008, 94 (04) :391-396

[3]

Dweikat Imad, 2011, Indian J Dermatol, V56, P98, DOI 10.4103/0019-5154.77567

[4] Mongolian Spots Are Not Always a Benign Sign [J].

Hackbart, Barbara Amorim ;

Arita, Juliana Harumi ;

Pinho, Ricardo Silva ;

Masruha, Marcelo Rodrigues ;

Pereira Vilanova, Luiz Celso .

JOURNAL OF PEDIATRICS, 2013, 162 (05) :1070-1070

[5]

Hammer M F., 1993, GeneReviews()

[6]

Kulkarni Ketan Prasad, 2009, Indian J Hum Genet, V15, P38, DOI 10.4103/0971-6866.50870

[7] Structural bases of GM1 gangliosidosis and Morquio B disease [J].

Morita, Mizuki ;

Saito, Seiji ;

Ikeda, Kazuyoshi ;

Ohno, Kazuki ;

Sugawara, Kanako ;

Suzuki, Toshihiro ;

Togawa, Tadayasu ;

Sakuraba, Hitoshi .

JOURNAL OF HUMAN GENETICS, 2009, 54 (09) :510-515

[8] GENERALIZED GANGLIOSIDOSIS - BETA-GALACTOSIDASE DEFICIENCY [J].

OKADA, S ;

OBRIEN, JS .

SCIENCE, 1968, 160 (3831) :1002-&

[9] Bone marrow transplantation correcting β-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis [J].

Shield, JPH ;

Stone, J ;

Steward, CG .

JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (05) :797-798

[10] Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease [J].

Suzuki, Yoshiyuki .

BRAIN & DEVELOPMENT, 2013, 35 (06) :515-523

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