Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567–83.PubMedWeb of ScienceCrossrefGoogle Scholar
Pastores GM, Hughes DA. Gaucher disease. 2000 Jul 27 [updated 2018 Jun 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993–2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1269/.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, et al. A Review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017;17:18.Web of ScienceGoogle Scholar
Tylki-Szymańska A, Vellodi A, El-Beshlawy A, Cole JA, Kolodny E. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 2010;33:339–46PubMedWeb of ScienceCrossrefGoogle Scholar
Bohlega S, Kambouris M, Shahid M, Al Homsi M, Al Sous W. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology 2000;11:261–3.Google Scholar
Mireles SA, Seybold J, Williams G. Undiagnosed type IIIc Gaucher disease in a child with aortic and mitral valve calcification: perioperative complications after cardiac surgery. J Cardiothorac Vasc Anesth 2010;24:471–4.Web of ScienceCrossrefGoogle Scholar
Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, et al. Gaucher’s disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 1995;14:1000–3.Google Scholar
Lachmann RH, Wight DG, Lomas DJ, Fisher NC, Schofield JP, et al. Massive hepatic fibrosis in Gaucher’s disease: clinico-pathological and radiological features. QJM 2000;93:237–44.CrossrefPubMedGoogle Scholar
Perel Y, Bioulac-Sage P, Chateil JF, Trillaud H, Carles J, et al. Gaucher’s disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy. Pediatrics 2002;109:1170–3.CrossrefPubMedGoogle Scholar
Harvengt J, Wanty C, De Paepe B, Sempoux C, Revencu N, et al. Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease. Mol Genet Metab Rep 2014;1:223–31.PubMedCrossrefGoogle Scholar
Ayto RM, Hughes DA, Jeevaratnam P, Rolles K, Burroughs AK, et al. Long-term outcomes of liver transplantation in type 1 Gaucher disease. Am J Transplant 2010;10:1934–9.CrossrefPubMedWeb of ScienceGoogle Scholar
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, et al. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab 2017;120:47–56.CrossrefPubMedWeb of ScienceGoogle Scholar
About the article
Published Online: 2019-04-26
Published in Print: 2019-05-27
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed Consent: Written informed consent was obtained from the parents and the patient who participated in this study.
Conflict of interest: There are no conflicts of interest and funding.