scholarly journals Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease

2015 ◽  
Vol 2 (s1) ◽  
pp. S70-S71
Author(s):  
R. Taurisano ◽  
A. D'Amico ◽  
G.S. Colafati ◽  
A. Pichiecchio ◽  
M. Catteruccia ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Variant Form ◽  
Long Term Follow Up

scholarly journals Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

2018 ◽  
Vol 41 (6) ◽  
pp. 1205-1214 ◽  
Author(s):  
Jan C. van der Meijden ◽  
Michelle E. Kruijshaar ◽  
Laurike Harlaar ◽  
Dimitris Rizopoulos ◽  
Nadine A. M. E. van der Beek ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)

2017 ◽  
Vol 264 (3) ◽  
pp. 589-590 ◽  
Author(s):  
Matteo Garibaldi ◽  
Sabrina Sacconi ◽  
Giovanni Antonini ◽  
Claude Desnuelle
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Long Term Follow Up

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

2009 ◽  
Vol 19 (2) ◽  
pp. 113-117 ◽  
Author(s):  
N.A.M.E. Van der Beek ◽  
M.L.C. Hagemans ◽  
A.J.J. Reuser ◽  
W.C.J. Hop ◽  
A.T. Van der Ploeg ◽  
...  
Keyword(s):  
Disease Progression ◽  
Pompe Disease ◽  
Late Onset ◽  
Long Term Follow Up

scholarly journals Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

2020 ◽  
Vol 6 (3) ◽  
pp. 72 ◽  
Author(s):  
Elizabeth G. Ames ◽  
Rachel Fisher ◽  
Mary Kleyn ◽  
Ayesha Ahmad
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Screening Methods ◽  
Type I ◽  
Health Departments ◽  
State Health ◽  
Long Term Follow Up ◽  
Short And Long Term

Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state’s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1–3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

2007 ◽  
Vol 17 (9-10) ◽  
pp. 698-706 ◽  
Author(s):  
Wolfgang Müller-Felber ◽  
Rita Horvath ◽  
Klaus Gempel ◽  
Teodor Podskarbi ◽  
Yoon Shin ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Long Term Follow Up

scholarly journals Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn

2013 ◽  
Vol 108 (2) ◽  
pp. S29-S30
Author(s):  
Yin-Hsiu Chien ◽  
Wuh-Liang Hwu ◽  
Ni-Chung Lee ◽  
Chun-An Chen ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Enzyme Therapy ◽  
Long Term Follow Up ◽  
Infantile Pompe Disease

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

2010 ◽  
Vol 33 (S3) ◽  
pp. 389-393 ◽  
Author(s):  
Monica Del Rizzo ◽  
Marina Fanin ◽  
Alessia Cerutti ◽  
Chiara Cazzorla ◽  
Ornella Milanesi ◽  
...  
Keyword(s):  
Case Report ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Long Term Follow Up

M.P.2.06 Gradual disease progression during long-term follow up of patients with late-onset Pompe disease

2007 ◽  
Vol 17 (9-10) ◽  
pp. 794 ◽  
Author(s):  
N. Van der Beek ◽  
M. Hagemans ◽  
A. Reuser ◽  
W. Hop ◽  
A. van der Ploeg ◽  
...  
Keyword(s):  
Disease Progression ◽  
Pompe Disease ◽  
Late Onset ◽  
Long Term Follow Up
Sign in / Sign up

Export Citation Format

Share Document