Bay L - Search Results

1

New recommendations for the care of patients with mucopolysaccharidosis type I.

Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber R, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121. Arch Argent Pediatr. 2021. PMID: 33749201 Free article. Review. English, Spanish.

2

[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening].

Bay LB, de Pinho S, Eiroa HD, Otegui I, Rodríguez R. Bay LB, et al. Arch Argent Pediatr. 2010 Feb;108(1):e13-6. doi: 10.1590/S0325-00752010000100017. Arch Argent Pediatr. 2010. PMID: 20204226 Free article. Spanish.

3

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Amartino H, Ceci R, Masllorens F, Gal A, Arberas C, Bay L, Ilari R, Dipierri J, Specola N, Cabrera A, Rozenfeld P. Amartino H, et al. Among authors: bay l. Mol Genet Metab Rep. 2014 Sep 17;1:401-406. doi: 10.1016/j.ymgmr.2014.08.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896113 Free PMC article.

4

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.

Bay L, Canero Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, Fassio E, Galoppo M, Pinero F, Rozenfeld P. Bay L, et al. Arch Argent Pediatr. 2017 Jun 1;115(3):287-293. doi: 10.5546/aap.2017.eng.287. Arch Argent Pediatr. 2017. PMID: 28504497 Free article. Review. English, Spanish.

5

Infantile-onset Pompe disease: Diagnosis and management.

Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N. Bay LB, et al. Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. Arch Argent Pediatr. 2019. PMID: 31339275 Free article. English, Spanish.

6

A few challenges in mucopolysaccharidosis type I.

Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber N, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193. Arch Argent Pediatr. 2021. PMID: 34033424 Free article. English, Spanish.

7

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF, Martins AM. Muñoz-Rojas MV, et al. Among authors: bay l. J Inherit Metab Dis. 2011 Oct;34(5):1029-37. doi: 10.1007/s10545-011-9336-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541721 Free PMC article.

8

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Al-Sannaa NA, Bay L, Barbouth DS, Benhayoun Y, Goizet C, Guelbert N, Jones SA, Kyosen SO, Martins AM, Phornphutkul C, Reig C, Pleat R, Fallet S, Ivanovska Holder I. Al-Sannaa NA, et al. Among authors: bay l. Orphanet J Rare Dis. 2015 Oct 7;10:131. doi: 10.1186/s13023-015-0344-4. Orphanet J Rare Dis. 2015. PMID: 26446585 Free PMC article.

9

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.

Polgreen LE, Bay L, Clarke LA, Guffon N, Jones SA, Muenzer J, Flores AL, Wilson K, Viskochil D. Polgreen LE, et al. Among authors: bay l. Am J Med Genet A. 2022 Oct;188(10):2941-2951. doi: 10.1002/ajmg.a.62910. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869927 Free PMC article.

10

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Viskochil D, Clarke LA, Bay L, Keenan H, Muenzer J, Guffon N. Viskochil D, et al. Among authors: bay l. Am J Med Genet A. 2019 Dec;179(12):2425-2432. doi: 10.1002/ajmg.a.61378. Epub 2019 Oct 22. Am J Med Genet A. 2019. PMID: 31639289 Free PMC article.

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