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Anais Brassier

Explore the profile of Anais Brassier including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 81
Citations 1095
Followers 0
Related Specialties
General Medicine
Endocrinology
Pediatrics
Top 10 Co-Authors
Pascale de Lonlay
Jean-Baptiste Arnoux
Manuel Schiff
Chris Ottolenghi
Aude Servais
Clement Pontoizeau
Aline Cano
Brigitte Chabrol
Samia Pichard
Vassili Valayannopoulos
Published In
Orphanet J Rare Dis
J Inherit Metab Dis
Mol Genet Metab
J Pediatr
Mol Genet Metab Rep
Affiliations
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Recent Articles
11.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber C, Dahmani-Rabehi B, Brassier A, Broue P, Cances C, Chabrol B, et al.
Orphanet J Rare Dis . 2023 Jul; 18(1):204. PMID: 37480097
Background: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset...
12.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
Brassier A, Pichard S, Schiff M, Bouchereau J, Berat C, Caillaud C, et al.
Mol Genet Metab . 2023 Jul; 139(4):107650. PMID: 37454519
In Infantile Onset Pompe Disease (IOPD), enzyme replacement therapy (ERT) may improve survival, cardiac function, and motor development. However, even with early enzyme replacement therapy, some patients experienced poor response...
13.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, et al.
Eur J Neurol . 2023 May; 30(9):2828-2837. PMID: 37235686
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...
14.
Successful treatment of severe MSUD in Bckdhb mice with neonatal AAV gene therapy
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, et al.
J Inherit Metab Dis . 2023 Mar; 47(1):41-49. PMID: 36880392
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain...
15.
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients
Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Berat C, Altenburger L, et al.
J Inherit Metab Dis . 2023 Jan; 46(4):649-661. PMID: 36680547
Mutations in the LPIN1 gene constitute a major cause of severe rhabdomyolysis (RM). The TLR9 activation prompted us to treat patients with corticosteroids in acute conditions. In patients with LPIN1...
16.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report
Kishnani P, Kronn D, Brassier A, Broomfield A, Davison J, Hahn S, et al.
Genet Med . 2022 Dec; 25(2):100328. PMID: 36542086
Purpose: Mini-COMET (NCT03019406; Sanofi) is a phase 2, open-label, ascending-dose, 3-cohort study, evaluating avalglucosidase alfa safety, pharmacokinetics, and efficacy in individuals with infantile-onset Pompe disease aged <18 years who previously...
17.
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Fernandez-Eulate G, Martin G, Dureau P, Speeg-Spatz C, Brassier A, Gillard P, et al.
Orphanet J Rare Dis . 2022 Dec; 17(1):434. PMID: 36514115
Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of...
18.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, et al.
Bone Marrow Transplant . 2022 Dec; 58(3):295-302. PMID: 36494569
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...
19.
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, et al.
Mol Genet Metab Rep . 2022 Nov; 33:100933. PMID: 36393896
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with...
20.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Yilmaz B, Baruteau J, Arslan N, Aydin H, Barth M, Bozaci A, et al.
Life (Basel) . 2022 Nov; 12(11). PMID: 36362876
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the...