Publications by authors named "Virginie Leboeuf"
Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.
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- A study conducted at Necker Hospital in Paris analyzed the use of enteral tube feeding (ETF) in 190 patients with inherited metabolic diseases (IMDs), focusing on various conditions like urea cycle disorders and fatty acid oxidation disorders.
- Out of the 190 patients, 52% received ETF primarily due to feeding difficulties, cessation of fasting, and recurrent metabolic issues, with complications occurring in nearly half of the cases.
- The study found significant variation in the duration of ETF between different disease subgroups, suggesting that gastrostomy may have advantages due to the risks associated with nasogastric tubes.
Background: Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a cohort of patients with neonatal-onset MSUD.
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