Perinatal lethal Gaucher disease: A case report and review of literature

An infant with type II Gaucher disease treated with enzyme replacement therapy

(2021) Go Ebihara et al.   PEDIATRICS INTERNATIONAL

The Natural History of Type 2 Gaucher Disease in the 21st Century: A Retrospective Study

(2020) Tamanna Roshan Lal et al.   NEUROLOGY

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations

(2019) Meili Wei et al.   Frontiers in Pediatrics

High-risk screening for Gaucher disease in patients with neurological symptoms

(2018) Ken Momosaki et al.   JOURNAL OF HUMAN GENETICS

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

(2018) Fatma Derya Bulut et al.   METABOLIC BRAIN DISEASE

Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease

(2017) Hiroyuki Adachi et al.   PEDIATRICS INTERNATIONAL

Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null RecNciI GBA Mutations

(2010) April Goebl et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY