Anais Brassier
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Explore the profile of Anais Brassier including associated specialties, affiliations and a list of published articles.
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81
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1095
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Recent Articles
21.
Gardin A, Mussini C, Heron B, Schiff M, Brassier A, Dobbelaere D, et al.
J Pediatr
. 2022 Oct;
254:75-82.e4.
PMID: 36265573
Objective: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder. Study Design: Patients...
22.
Ouattara A, Resseguier N, Cano A, de Lonlay P, Arnoux J, Brassier A, et al.
J Pediatr
. 2022 Oct;
254:39-47.e4.
PMID: 36265570
Objective: The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French...
23.
Jubert C, de Berranger E, Castelle M, Dalle J, Ouachee-Chardin M, Sevin C, et al.
Bull Cancer
. 2022 Oct;
110(2S):S1-S12.
PMID: 36244825
Inherited Metabolic Diseases (IMD) are rare genetic diseases, including both lysosomal and peroxisomal diseases. Lysosomal diseases are related to the deficiency of one or more lysosomal enzymes or transporter. Lysosomal...
24.
Marelli C, Fouilhoux A, Benoist J, de Lonlay P, Guffon-Fouilhoux N, Brassier A, et al.
J Inherit Metab Dis
. 2022 May;
45(5):937-951.
PMID: 35618652
Objectives: To present the very long-term follow up of patients with cobalamin A (cblA) deficiency. Methods: A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis...
25.
Alili J, Berleur M, Husson M, Mention K, Schiff M, Arnoux J, et al.
Orphanet J Rare Dis
. 2022 May;
17(1):202.
PMID: 35578286
Background: Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration routes. In some patients,...
26.
Goetz V, Yang D, Lacaille F, Pelosi M, Angoulvant F, Brassier A, et al.
Mol Genet Metab
. 2022 Feb;
135(4):320-326.
PMID: 35221207
Objectives: Reye Syndrome is an acute encephalopathy with increased liver enzymes and blood ammonia, without jaundice. The prevalence of an underlying inherited metabolic disorder (IMD) is unclear, nor the clinical...
27.
Mauhin W, Borie R, Dalbies F, Douillard C, Guffon N, Lavigne C, et al.
J Clin Med
. 2022 Feb;
11(4).
PMID: 35207195
Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells...
28.
Genevaz D, Arnoux A, Marcel C, Brassier A, Pichard S, Feillet F, et al.
Orphanet J Rare Dis
. 2022 Feb;
17(1):68.
PMID: 35189927
Background: Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life...
29.
Demaret T, Lacaille F, Wicker C, Arnoux J, Bouchereau J, Belloche C, et al.
Orphanet J Rare Dis
. 2021 Dec;
16(1):507.
PMID: 34906190
Background: Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death...
30.
Ditters I, Huidekoper H, Kruijshaar M, Rizopoulos D, Hahn A, Mongini T, et al.
Lancet Child Adolesc Health
. 2021 Nov;
6(1):28-37.
PMID: 34822769
Background: Enzyme replacement therapy (ERT) with alglucosidase alfa has been found to improve outcomes in patients with classic infantile Pompe disease, who without treatment typically die before the age of...