Literature DB >> 25332452

Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.

Amy Armstrong-Javors1, Catherine J Chu2.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 25332452      PMCID： PMC4222851          DOI： 10.1212/WNL.0000000000000912

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  10 in total

1.  The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.

Authors:  J Patrick van der Voorn; Wout Kamphorst; Marjo S van der Knaap; James M Powers
Journal:  Acta Neuropathol       Date:  2004-03-20       Impact factor: 17.088

2.  Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis.

Authors:  J P H Shield; J Stone; C G Steward
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Dermal melanocytosis associated with GM1-gangliosidosis type 1.

Authors:  Leila David Bloch; Fernando Yoshiaki Matsumoto; Walter Belda; Roberto Giugliani; Luis Fernando Menezes; Chong A Kim; Maria Cecilia da Matta Rivitti Machado
Journal:  Acta Derm Venereol       Date:  2006       Impact factor: 4.437

4.  Structural bases of GM1 gangliosidosis and Morquio B disease.

Authors:  Mizuki Morita; Seiji Saito; Kazuyoshi Ikeda; Kazuki Ohno; Kanako Sugawara; Toshihiro Suzuki; Tadayasu Togawa; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2009-07-31       Impact factor: 3.172

5.  Mongolian spots are not always a benign sign.

Authors:  Bárbara Amorim Hackbart; Juliana Harumi Arita; Ricardo Silva Pinho; Marcelo Rodrigues Masruha; Luiz Celso Pereira Vilanova
Journal:  J Pediatr       Date:  2013-01-30       Impact factor: 4.406

Review 6.  Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.

Authors:  Yoshiyuki Suzuki
Journal:  Brain Dev       Date:  2013-01-03       Impact factor: 1.961

7.  Child with Mongolian spots and dysostosis multiplex.

Authors:  Ketan Prasad Kulkarni; Srinivasa Murthy; Inusha Panigrahi
Journal:  Indian J Hum Genet       Date:  2009-01

Review 8.  GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Authors:  Nicola Brunetti-Pierri; Fernando Scaglia
Journal:  Mol Genet Metab       Date:  2008-06-03       Impact factor: 4.797

9.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

10.  Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.

Authors:  Imad Dweikat; Bassam Abu Libdeh; Hanadi Murrar; Samir Khalil; Nizar Maraqa
Journal:  Indian J Dermatol       Date:  2011-01       Impact factor: 1.494
  10 in total
  4 in total

Review 1.  A comprehensive review of Mongolian spots with an update on atypical presentations.

Authors:  Yusuf Alimi; Joe Iwanaga; Marios Loukas; Rod J Oskouian; Elias Rizk; W Jerry Oakes; R Shane Tubbs
Journal:  Childs Nerv Syst       Date:  2018-08-06       Impact factor: 1.475

2.  Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

Authors:  Parvaneh Karimzadeh; Samaneh Naderi; Farzaneh Modarresi; Hassan Dastsooz; Hamid Nemati; Tayebeh Farokhashtiani; Bibi Shahin Shamsian; Soroor Inaloo; Mohammad Ali Faghihi
Journal:  BMC Med Genet       Date:  2017-07-17       Impact factor: 2.103

3.  Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Authors:  Haoran Ji; Dongxiao Li; Ye Wu; Quanli Zhang; Qiang Gu; Han Xie; Taoyun Ji; Huifang Wang; Lu Zhao; Haijuan Zhao; Yanling Yang; Hongchun Feng; Hui Xiong; Jinhua Ji; Zhixian Yang; Liping Kou; Ming Li; Xinhua Bao; Xingzhi Chang; Yuehua Zhang; Li Li; Huijuan Li; Zhengping Niu; Xiru Wu; Jiangxi Xiao; Yuwu Jiang; Jingmin Wang
Journal:  PLoS One       Date:  2018-02-16       Impact factor: 3.240

4.  Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis.

Authors:  Suprabhat Ranjan; Pratap K Patra
Journal:  J Pediatr Neurosci       Date:  2018 Jul-Sep
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.