Affiliation: Massachusetts General Hospital
- An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutationJohn F Staropoli
Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
BMC Med Genet 13:50. 2012..The clinical heterogeneity of these disorders may shed light on genetic interactors that modify disease onset and progression...
- Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort studyK B Sims
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
Clin Genet 73:430-40. 2008..17 +/- 1.206 (p = 0.035) at month 36. This increase was sustained at 48 months. With imiglucerase treatment, patients should anticipate resolution of BC, rapid improvement in BP, increases in BMD, and decreased skeletal complications...
- Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry RegistryKatherine Sims
Center for Human Genetic Research and Neurology Department, Massachusetts General Hospital and Harvard Medical School, Boston, Mass 02114, USA
Stroke 40:788-94. 2009..This study was undertaken to better understand the natural history of cerebrovascular manifestations of Fabry disease...
- CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin
Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, and Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building, Boston, MA 02114, USA
Neurology 74:565-71. 2010....