Ontology highlight
ABSTRACT:
SUBMITTER: Schiffmann R
PROVIDER: S-EPMC7540563 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Schiffmann Raphael R Sevigny Jeff J Rolfs Arndt A Davies Elin Haf EH Goker-Alpan Ozlem O Abdelwahab Magy M Vellodi Ashok A Mengel Eugen E Lukina Elena E Yoo Han-Wook HW Collin-Histed Tanya T Narita Aya A Dinur Tama T Revel-Vilk Shoshana S Arkadir David D Szer Jeff J Wajnrajch Michael M Ramaswami Uma U Sidransky Ellen E Donald Aimee A Zimran Ari A
Journal of inherited metabolic disease 20200403 5
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic form-Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropria ...[more]