Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease

(2015) Ives T. Villamizar-Schiller et al.   European Journal of Medical Genetics

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI

(2013) Mahmoud Reza Ashrafi et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

(2012) Pauline Gaignard et al.   GENE

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

(2012) Stefania Zampieri et al.   PLoS One

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

(2011) NICHOLAS J SMITH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

(2009) Stefania Zampieri et al.   NEUROGENETICS

Lysosomal Storage Disorders in the Newborn

(2009) O. Staretz-Chacham et al.   PEDIATRICS