K Sims

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. pmc An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
    John 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
  2. pmc 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 study
    K B Sims
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Clin Genet 73:430-40. 2008
  3. doi request reprint Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry
    Katherine 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
  4. doi request reprint CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
    W 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

Collaborators

  • G M Pastores
  • Paige Kaplan
  • John F Staropoli
  • W Xin
  • Winnie Xin
  • Rosemary Barone
  • Susan L Cotman
  • C Chu-Shore
  • T E Mullen
  • Y Cao
  • J Min
  • L O'Malley
  • Y Shen
  • X Feng
  • R Kiely
  • S E Mole
  • H H Goebel

Detail Information

Publications4

  1. pmc An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
    John 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...
  2. pmc 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 study
    K 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...
  3. doi request reprint Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry
    Katherine 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...
  4. doi request reprint CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
    W 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
    ....