Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase
C Vulpe, B Levinson, S Whitney, S Packman… - Nature …, 1993 - nature.com
Menkes disease is an X–linked disorder of copper transport characterized by progressive
neurological degeneration and death in early childhood. We have isolated a candidate gene (…
neurological degeneration and death in early childhood. We have isolated a candidate gene (…
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
…, M Goldman, G Grabowski, S Packman… - Annals of internal …, 2003 - acpjournals.org
Fabry disease (-galactosidase A deficiency) is an X-linked recessive lysosomal storage
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…
disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular…
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
…, M McDonald, R Finkel, S Packman… - Annals of internal …, 2007 - acpjournals.org
Background: Fabry disease (α-galactosidase A deficiency) is a rare, X-linked lysosomal
storage disorder that can cause early death from renal, cardiac, and cerebrovascular …
storage disorder that can cause early death from renal, cardiac, and cerebrovascular …
[HTML][HTML] Treatment of Fabry's disease with the pharmacologic chaperone migalastat
…, A Jovanovic, S Waldek, S Packman… - New england journal …, 2016 - Mass Medical Soc
Background Fabry’s disease, an X-linked disorder of lysosomal α-galactosidase deficiency,
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
…, J Bultas, GE Linthorst, S Packman… - Nephrology Dialysis …, 2009 - academic.oup.com
Background. In Fabry disease, progressive glycolipid accumulation leads to organ damage
and early demise, but the incidence of renal, cardiac and cerebrovascular events has not …
and early demise, but the incidence of renal, cardiac and cerebrovascular events has not …
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
…, R Lemay, GE Linthorst, S Packman… - Journal of medical …, 2015 - jmg.bmj.com
Background Fabry disease results from deficient α-galactosidase A activity and
globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic …
globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic …
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
…, L Sender, VA Cool, M Crittenden, S Packman… - 1996 - ashpublications.org
Long-term survival and improved neuropsychological function have occurred in selected
children with Hurler syndrome (MPS IH) after successful engraftment with genotypically …
children with Hurler syndrome (MPS IH) after successful engraftment with genotypically …
Cellular copper transport
CD Vulpe, S Packman - Annual review of nutrition, 1995 - annualreviews.org
Cellular copper transport processes are required by all organisms for correct utilization in cell
biochemical processes and avoidance of the toxicity of copper excess. Copper import into …
biochemical processes and avoidance of the toxicity of copper excess. Copper import into …
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial
… Dr Packman is a principal investigator in the eliglustat ENGAGE and ENCORE trials and
has received research grants and travel reimbursement from Genzyme. Dr Pastores is a …
has received research grants and travel reimbursement from Genzyme. Dr Pastores is a …
Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
…, LS Steinbach, K Hart, S Packman - Journal of Pediatric …, 2004 - journals.lww.com
Bone marrow transplantation (BMT) is effective in ameliorating many of the clinical
manifestations of Hurler syndrome. However, long-term data on the natural history of the …
manifestations of Hurler syndrome. However, long-term data on the natural history of the …