Francois Maillot
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Explore the profile of Francois Maillot including associated specialties, affiliations and a list of published articles.
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123
Citations
1005
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Recent Articles
1.
Nicolas M, Giret C, Pellieux S, Toutain A, Bergemer-Fouquet A, Laforet P, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101197.
PMID: 39981214
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance...
2.
Dybal E, Maillot F, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109044.
PMID: 39919675
Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendations suggest maintaining...
3.
Tchan M, Lehman A, van Dussen L, Langendonk J, Janssen M, Langeveld M, et al.
J Inherit Metab Dis
. 2025 Feb;
48(2):e70005.
PMID: 39912519
There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper...
4.
Gay S, Bigot A, DAlteroche L, Dujardin F, Fromont-Hankard G, Tressel N, et al.
JIMD Rep
. 2025 Jan;
66(1):e12463.
PMID: 39866164
Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo-1,6-glucosidase. This condition presents with severe hepatic symptoms in childhood,...
5.
Brachet M, Charriere S, Douillard C, Feillet F, Fouilhoux A, Astudillo L, et al.
J Neurol
. 2024 Dec;
272(1):53.
PMID: 39666084
Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group...
6.
Bercu L, Amati-Bonneau P, Desquiret-Dumas V, Procaccio V, Maillot F
J Inherit Metab Dis
. 2024 Nov;
48(1):e12820.
PMID: 39600123
No abstract available.
7.
Tonon T, Martinez C, Nalin T, Poloni S, Piltcher O, Maillot F, et al.
JIMD Rep
. 2024 Nov;
65(6):426-432.
PMID: 39512432
Patients with phenylketonuria (PKU) have a highly restrictive diet, which involves restriction of phenylalanine (Phe) intake and daily use of Phe-free metabolic formula. However, little is known about the potential...
8.
Rocha J, Hermida A, Jones C, Wu Y, Clague G, Rose S, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):338.
PMID: 39267130
Background: Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low bone...
9.
Arnoux J, Douillard C, Maillot F, Bouee S, Jacob C, Schneider K, et al.
Mol Genet Metab Rep
. 2024 Sep;
41:101134.
PMID: 39253300
Background: Phenylketonuria (PKU) is an inherited metabolic disease. If left untreated, it can lead to severe irreversible intellectual disability and can cause seizures, behavior disturbance, and white matter disease. This...
10.
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Whitehall K, Rose S, Clague G, Ahring K, Bilder D, Harding C, et al.
Orphanet J Rare Dis
. 2024 Aug;
19(1):293.
PMID: 39135125
Background: Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers...