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94 results

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Page 1
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: brassier a. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V. Curie A, et al. Among authors: brassier a. Neurology. 2024 Apr 23;102(8):e209243. doi: 10.1212/WNL.0000000000209243. Epub 2024 Mar 26. Neurology. 2024. PMID: 38531017
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I. Dupuy G, et al. Among authors: brassier a. Eur J Paediatr Neurol. 2024 May;50:6-15. doi: 10.1016/j.ejpn.2024.02.013. Epub 2024 Feb 26. Eur J Paediatr Neurol. 2024. PMID: 38520815
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P. Busiah K, et al. Among authors: brassier a. Mol Genet Metab. 2024 Mar;141(3):108123. doi: 10.1016/j.ymgme.2023.108123. Epub 2024 Jan 1. Mol Genet Metab. 2024. PMID: 38219674
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P. Wicker C, et al. Among authors: brassier a. Mol Genet Metab. 2023 Nov;140(3):107674. doi: 10.1016/j.ymgme.2023.107674. Epub 2023 Jul 31. Mol Genet Metab. 2023. PMID: 37542768
Citrulline in the management of patients with urea cycle disorders.
Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P. Imbard A, et al. Among authors: brassier a. Orphanet J Rare Dis. 2023 Jul 21;18(1):207. doi: 10.1186/s13023-023-02800-8. Orphanet J Rare Dis. 2023. PMID: 37480106 Free PMC article.
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, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: brassier a. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
94 results