2023
DOI: 10.1111/ene.15894
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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Marine Tardieu,
Céline Cudejko,
Aline Cano
et al.

Abstract: Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020. Results Sixty‐four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). E… Show more

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Cited by 4 publications
(1 citation statement)
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“…Early identification and ERT have significantly enhanced the prognosis of IOPD. However, despite the treatment, the mortality rate of children from respiratory and cardiac failure remains high [21,22]. The apprehension of sudden death stands out as one of the biggest sources of suffering that parents experience, compounded by the necessity to talk about the child's illness with the child's siblings [12].…”
Section: The Unspoken Fearsmentioning
confidence: 99%
“…Early identification and ERT have significantly enhanced the prognosis of IOPD. However, despite the treatment, the mortality rate of children from respiratory and cardiac failure remains high [21,22]. The apprehension of sudden death stands out as one of the biggest sources of suffering that parents experience, compounded by the necessity to talk about the child's illness with the child's siblings [12].…”
Section: The Unspoken Fearsmentioning
confidence: 99%