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Items: 1 to 20 of 36

1.

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, Becerra A, Peralta F, de Kremer RD, Laróvere LE.

Orphanet J Rare Dis. 2019 Aug 19;14(1):203. doi: 10.1186/s13023-019-1177-3.

2.

Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.

Pesaola F, Kohan R, Cismondi IA, Guelbert N, Pons P, Oller-Ramirez AM, Noher de Halac I.

Rev Neurol. 2019 Feb 16;68(4):155-159. Spanish, English.

3.

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Asteggiano CG, Papazoglu M, Bistué Millón MB, Peralta MF, Azar NB, Spécola NS, Guelbert N, Suldrup NS, Pereyra M, Dodelson de Kremer R.

Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18.

PMID:
30397276
4.

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America.

Politei JM, Gordillo-González G, Guelbert NB, de Souza CFM, Lourenço CM, Solano ML, Junqueira MM, Magalhães TSPC, Martins AM.

J Pain Symptom Manage. 2018 Jul;56(1):146-152. doi: 10.1016/j.jpainsymman.2018.03.023. Epub 2018 Apr 10.

PMID:
29649527
5.

WITHDRAWN: Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America.

Politei JM, Gordillo-González G, Guelbert N, Souza CFM, Lourenço CM, Solano ML, Junqueira MM, Magalhães TSPC, Martins AM.

J Pain Symptom Manage. 2018 Apr 1. pii: S0885-3924(18)30180-5. doi: 10.1016/j.jpainsymman.2018.03.020. [Epub ahead of print]

PMID:
29614328
6.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.

Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5.

7.

Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A.

Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Review.

8.

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA.

Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):386-394. doi: 10.1016/j.bbadis.2016.11.031. Epub 2016 Dec 1.

9.

Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina.

Larroudé MS, Aguilar G, Rossi I, Drelichman G, Fernandez Escobar N, Basack N, Slago M, Schenone A, Fynn A, Cuello MF, Fernandez R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galvan G, Chain JJ, Arizo A, Bietti J, Aznar M, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Fernandez I, Jaureguiberry R, Barbieri MA, Maro A, Zarate G, Fernandez G, Rapetti M, Degano A, Kantor G, Albina A, Alvarez Bollea M, Arrocena H, Bacciedoni V, Del Rio F.

J Clin Densitom. 2016 Oct;19(4):444-449. doi: 10.1016/j.jocd.2016.07.003. Epub 2016 Aug 26.

PMID:
27574779
10.

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR.

J Inherit Metab Dis. 2016 Nov;39(6):839-847. Epub 2016 Aug 23.

11.

Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.

Drelichman G, Fernández Escobar N, Basack N, Aversa L, Larroude MS, Aguilar G, Szlago M, Schenone A, Fynn A, Cuello MF, Aznar M, Fernández R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galván G, Chain JJ, Arizo A, Bietti J, Bar D, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Sanabria A, Fernández I, Jaureguiberry R, Contte M, Barbieri María A, Maro A, Zárate G, Fernández G, Rapetti MC, Donato H, Degano A, Kantor G, Albina R, Á Lvarez Bollea M, Brun M, Bacciedoni V, Del Río F, Soberón B, Boido N, Schweri M, Borchichi S, Welsh V, Corrales M, Cedola A, Carvani A, Diez B, Richard L, Baduel C, Nuñez G, Colimodio R, Barazzutti L, Medici H, Meschengieser S, Damiani G, Nucifora M, Girardi B, Gómez S, Papucci M, Verón D, Quiroga L, Carro G, De Ambrosio P, Ferro J, Pujol M, Castella CC, Franco L, Nisnovich G, Veloso M, Pacheco I, Savarino M, Marino A, Saavedra JL.

Am J Hematol. 2016 Oct;91(10):E448-53. doi: 10.1002/ajh.24486. Epub 2016 Aug 22.

12.

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, Harmatz PR.

Mol Genet Metab. 2016 Sep;119(1-2):131-43. doi: 10.1016/j.ymgme.2016.05.018. Epub 2016 Jun 16.

13.

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.

Orphanet J Rare Dis. 2015 Oct 7;10:131. doi: 10.1186/s13023-015-0344-4.

14.

[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].

Politei J, Schenone AB, Guelbert N, Fainboim A, Szlago M.

Arch Argent Pediatr. 2015 Aug;113(4):359-64. doi: 10.5546/aap.2015.359. Review. Spanish.

15.

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R, Pesaola F, Guelbert N, Pons P, Oller-Ramírez AM, Rautenberg G, Becerra A, Sims K, Xin W, Cismondi IA, Noher de Halac I.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2301-11. doi: 10.1016/j.bbadis.2015.05.003. Epub 2015 May 11. Review.

16.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, Decker C.

Mol Genet Metab. 2015 Feb;114(2):186-94. doi: 10.1016/j.ymgme.2014.10.015. Epub 2014 Nov 1.

17.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators, Yang K, Mealiffe M, Haller C.

Mol Genet Metab. 2015 Feb;114(2):178-85. doi: 10.1016/j.ymgme.2014.08.012. Epub 2014 Sep 6.

18.

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

Giugliani R, Villarreal ML, Valdez CA, Hawilou AM, Guelbert N, Garzón LN, Martins AM, Acosta A, Cabello JF, Lemes A, Santos ML, Amartino H.

Genet Mol Biol. 2014 Jun;37(2):315-29. Review.

19.

[Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Consenso de Médicos de AADELFA y GADYTEF, Neumann P, Antongiovanni N, Fainboim A, Kisinovsky I, Amartino H, Cabrera G, Carmona S, Ceci R, Cicerán A, Choua M, Doxastakis G, De Maio S, Ebner R, Escobar AM, Ferrari G, Forrester M, Guelbert N, Luna P, Marchesoni C, Masllorens F, Politei J, Reisin R, Ripeau D, Rozenfeld P, Serebrinsky G, Tarabuso AL, Trípoli J.

Medicina (B Aires). 2013;73(5):482-94. Spanish.

20.

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ; HOS Natural History Working Group on behalf of HOS Investigators.

Mol Genet Metab. 2013 May;109(1):41-8. doi: 10.1016/j.ymgme.2013.03.001. Epub 2013 Mar 14.

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