Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

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ALAEI MOHAMMADREZA; TABRIZI AYDIN; JAFARI NARJES; MOZAFARI HADI

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Journal Paper

Paper Information

Journal: Iranian Journal of Child Neurology Year:2019 | Volume:13 | Issue:1 Page(s): 7-24

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Title

Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

Author(s)

ALAEI MOHAMMADREZA | TABRIZI AYDIN | JAFARI NARJES | MOZAFARI HADI | Issue Writer Certificate

Keywords

Gaucher disease

Neurological manifestations

Phenotypes

Abstract

Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the Neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. However, report of new variants has led to the expansion of phenotype as a clinical phenotype of GD considered as a continuum of Phenotypes. Therefore, it seems that a new classification is needed to cover new forms of the disease.

Cites

Comparing the effect of hypotension treatment due to spinal anesthesia with ephedrine or phenylephrine on arterial blood gases and neonatal Apgar score during cesarean delivery in obese mothers: randomized clinical trial

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APA: Copy

ALAEI, MOHAMMADREZA, TABRIZI, AYDIN, JAFARI, NARJES, & MOZAFARI, HADI. (2019). Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 13(1), 7-24. SID. https://sid.ir/paper/303621/en

Vancouver: Copy

ALAEI MOHAMMADREZA, TABRIZI AYDIN, JAFARI NARJES, MOZAFARI HADI. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2019;13(1):7-24. Available from: https://sid.ir/paper/303621/en

IEEE: Copy

MOHAMMADREZA ALAEI, AYDIN TABRIZI, NARJES JAFARI, and HADI MOZAFARI, “Gaucher Disease: New Expanded Classification Emphasizing Neurological Features,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 13, no. 1, pp. 7–24, 2019, [Online]. Available: https://sid.ir/paper/303621/en

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