[HTML][HTML] Outcome of later-onset Pompe disease identified through newborn screening

NC Lee, KL Chang, SLM In't Groen, DOS de Faria… - The Journal of …, 2022 - Elsevier
… timing of ERT initiation, as well as its effect (Figure 2). … used, such as “later-onset” in Missouri,
32 “possible LOPD” in Illinois… , we cannot use these early signs as criteria for initiating ERT, …

A newborn screening, presymptomatically identified infant with late-onset Pompe disease: case report, parental experience, and recommendations

RY Wang - International journal of neonatal screening, 2020 - mdpi.com
… , and timing of treatment initiation. This report presents a 31 5/7 weeks’ gestational age … It
predicts later onset Pompe disease. … as possible once CRIM status has been confirmed and …

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

E Huggins, M Holland, LE Case, J Blount… - Molecular genetics and …, 2022 - Elsevier
… , to a highly variable, later-onset form (LOPD). Classic IOPD is … Very early initiation of treatment
with ERT leads to the best … should always have an echocardiogram as early as possible to …

Advances in diagnosis and management of Pompe disease

JE Davison - Journal of Mother and Child, 2020 - sciendo.com
… result in earlier diagnosis and enable earlier treatment initiation, which … of infants with Pompe
disease identified by newborn … A report of three later-onset patients. Mol Genet Metab. 2010;…

The first year experience of newborn screening for Pompe disease in California

H Tang, L Feuchtbaum, S Sciortino, J Matteson… - … journal of neonatal …, 2020 - mdpi.com
Treatment beginning as soon as the disease is detected, or as early as possible, can … This
paper reports the findings from the first year of population-based Pompe disease screening. …

[HTML][HTML] Newborn screening for Pompe disease in Italy: Long-term results and future challenges

V Gragnaniello, PWWM Pijnappel, AP Burlina… - Molecular Genetics and …, 2022 - Elsevier
… very early initiation of treatment. In IOPD, treatment should be initiated as soon as possible;
Early detection and ERT are certainly beneficial for IOPD patients, but also for less severe …

A Comprehensive Update on Late-Onset Pompe Disease

B Labella, S Cotti Piccinelli, B Risi, F Caria, S Damioli… - Biomolecules, 2023 - mdpi.com
… was greater when initiated in the early stages of disease [155]. … Several hypotheses have
been proposed, including possible … The wide accessibility of newborn screening for PD around …

Newborn screening for Pompe disease

T Sawada, J Kido, K Nakamura - International journal of neonatal …, 2020 - mdpi.com
… IOPD should be initiated as early as possible before irreversible damage occurs. Yang et
al. indicated that early identification of patients with IOPD allows for very early initiation of ERT. …

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

NR Pillai, NAV Fabie, TV Kaye, SD Rosendahl… - Molecular genetics and …, 2023 - Elsevier
Early detection and initiation of treatment with enzyme … , whether treatment was initiated, and
whether the newborn … hypothyroidism, so it is possible that hypothyroidism in LOPD patients …

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

SC Chiang, YH Chien, KL Chang, NC Lee… - … Journal of Neonatal …, 2020 - mdpi.com
Pompe disease (IOPD) to the later-onset Pompe disease (… demonstrate that the early
initiation of treatment improves the … treatment as early as possible to achieve the best treatment