Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings

Author:

Ramadža Danijela Petković,Zekušić Marija,Žigman Tamara,Škaričić Ana,Bogdanić Ana,Mustać Gordana,Bošnjak-Nađ Katarina,Ozretić David,Ohno Kousaku,Fumić Ksenija,Barić Ivo

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history;Baris;Pediatr. Endocrinol. Rev.,2014

2. Gaucher disease: complexity in a "simple" disorder;Sidranski;Mol. Genet. Metabol.,2014

3. Neuronopathic gaucher disease: demographic and clinical features of 131 patients enrolled in the international collaborative gaucher group neurological outcomes subregistry;Tylki-Szymańska;J. Inherit. Metab. Dis.,2010

4. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3;Goker-Alpan;J. Pediatr.,2003

5. The spectrum of neurological manifestations associated with Gaucher disease;Roshan Lal;Diseases,2017

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