Beutler E GG . The Metabolic and Molecular Bases of Inherited Diseases . 8 th ed . Scriver CR BA , Sly WS , Valle D , editor . New York : McGraw - Hill ; 2001 . Martins AM , Valadares ER , Porta G , Coelho J , Semionato Filho J , Pianovski MA , et al . Recommendations on diagnosis , treatment , and monitoring for Gaucher disease . J Pediatr . 2009 ; 155 ( 4 Suppl ) : S 10 - 8 . Starzyk K , Richards S , Yee J , Smith SE , Kingma W . The long - term international safety experience of imiglucerase therapy for Gaucher disease . Mol Genet Metab . 2007 ; 90 ( 2 ) : 157 - 63 . Smeltzer DM , Stickler GB , Schirger A . Primary lymphedema in children and adolescents : a follow - up study and review . Pediatrics . 1985 ; 76 ( 2 ) : 206 - 18 . Kim YM , Shin DH , Park SB , Cheon CK , Yoo HW . Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease : comparison of eliglustat tartrate treatment and enzyme replacement therapy . BMC Med Genet . 2017 ; 18 ( 1 ) : 55 . Schiffmann R . Therapeutic approaches for neuronopathic lysosomal storage disorders . J Inherit Metab Dis . 2010 ; 33 ( 4 ) : 373 - 9 . Vellodi A , Tylki - Szymanska A , Davies EH , Kolodny E , Bembi B , Collin - Histed T , et al . Management of neuronopathic Gaucher disease : revised recommendations . J Inherit Metab Dis . 2009 ; 32 ( 5 ) : 660 - 4 . Pastores GM . Recombinant glucocerebrosidase ( imiglucerase ) as a therapy for Gaucher disease . BioDrugs : clinical immunotherapeutics , biopharmaceuticals and gene therapy . 2010 ; 24 ( 1 ) : 41 - 7 . Maegawa GH , Tropak MB , Buttner JD , Rigat BA , Fuller M , Pandit D , et al . Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease . The Journal of biological chemistry . 2009 ; 284 ( 35 ) : 23502 - 16 . Lee BH , Kim DY , Kim GH , Cho KJ , Yoon HK , Yoo HW . Progressive mesenteric lymphadenopathy with protein - losing enteropathy ; a devastating complication in Gaucher disease . Mol Genet Metab . 2012 ; 105 ( 3 ) : 522 - 4 .