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1.

Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?

Grant, Christina L; López-Valdez, Jaime; Marsden, Deborah; Ezgü, Fatih.

Mol Genet Metab; 141(3): 108145, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38301529

2.

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.

Yang, Erru; Kruger, Eliza; Yin, David; Mace, Kieran; Tierney, Meghan; Liao, Noelle; Cibelli, Emily; Drozd, Dan; Ross, Nathan; Deering, Kathleen L; Herout, Peter; Harshaw, Qing; Shillington, Alicia; Thomas, Nina; Marsden, Deborah; Kritzer, Amy; Vockley, Jerry.

Mol Genet Metab; 142(1): 108350, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38458123

3.

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.

Vockley, Jerry; Enns, Gregory M; Ramirez, Antonio Nino; Bedrosian, Camille L; Reineking, Bridget; Lu, Xiaoxiao; Ray, Kathryn; Rahman, Syeda; Marsden, Deborah.

Mol Genet Metab; 136(2): 152-162, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35459555

4.

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

Lau, Heather A; Viskochil, David; Tanpaiboon, Pranoot; Lopez, Antonio Gonzalez-Meneses; Martins, Esmeralda; Taylor, Julie; Malkus, Betsy; Zhang, Lin; Jurecka, Agnieszka; Marsden, Deborah.

Mol Genet Metab; 136(1): 28-37, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35331634

5.

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.

Marsden, Deborah; Bedrosian, Camille L; Vockley, Jerry.

Genet Med; 23(5): 816-829, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33495527

6.

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

Kakkis, Emil; Marsden, Deborah.

Mol Genet Metab; 130(1): 7-15, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32224020

7.

Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.

Jones, Simon A; Marsden, Deborah; Koutsoukos, Tony; Sniadecki, Jennifer; Tylee, Karen; Phillippo, Sarah; Kakkis, Emil.

Mol Genet Metab; 130(4): 255-261, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32563631

8.

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.

Wang, Raymond Y; da Silva Franco, José Francisco; López-Valdez, Jaime; Martins, Esmeralda; Sutton, Vernon Reid; Whitley, Chester B; Zhang, Lin; Cimms, Tricia; Marsden, Deborah; Jurecka, Agnieszka; Harmatz, Paul.

Mol Genet Metab; 129(3): 219-227, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-32063397

9.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley, Jerry; Burton, Barbara; Berry, Gerard T; Longo, Nicola; Phillips, John; Sanchez-Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao-Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil.

J Inherit Metab Dis; 42(1): 169-177, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30740733

10.

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

Vockley, Jerry; Marsden, Deborah; McCracken, Elizabeth; DeWard, Stephanie; Barone, Amanda; Hsu, Kristen; Kakkis, Emil.

Mol Genet Metab; 116(1-2): 53-60, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26116311

11.

Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].

Wang, Raymond Y; da Silva Franco, José Francisco; López-Valdez, Jaime; Martins, Esmeralda; Sutton, Vernon Reid; Whitley, Chester B; Zhang, Lin; Cimms, Tricia; Marsden, Deborah; Jurecka, Agnieszka; Harmatz, Paul.

Mol Genet Metab; 131(1-2): 285, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32843286

12.

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Giugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B; Chabrol, Brigitte; Grant, Christina L; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt Ii, J Lawrence.

Orphanet J Rare Dis; 19(1): 189, 2024 May 07.

Artículo en Inglés | MEDLINE | ID: mdl-38715031

13.

Growth patterns in patients with mucopolysaccharidosis VII.

Montaño, Adriana M; Rózdzynska-Swiatkowska, Agnieszka; Jurecka, Agnieszka; Ramirez, Antonio Nino; Zhang, Lin; Marsden, Deborah; Wang, Raymond Y; Harmatz, Paul.

Mol Genet Metab Rep; 36: 100987, 2023 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-37415957

14.

Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example.

Kruger, Eliza; McNiven, Paul; Marsden, Deborah.

Adv Ther; 39(7): 3361-3377, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35674971

15.

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Peake, Roy W A; Marsden, Deborah L; Bodamer, Olaf A; Gelb, Michael H; Millington, David S; Wijburg, Frits.

Clin Chem; 62(11): 1430-1438, 2016 11.

Artículo en Inglés | MEDLINE | ID: mdl-27630153

16.

Newborn screening of lysosomal storage disorders.

Marsden, Deborah; Levy, Harvey.

Clin Chem; 56(7): 1071-9, 2010 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-20489136

17.

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.

Berry, Gerard T; Blume, Elizabeth D; Wessel, Ann; Singh, Tajinder; Hecht, Leah; Marsden, Deborah; Sahai, Inderneel; Elisofon, Scott; Ferguson, Michael; Kim, Heung Bae; Harris, David J; Demirbas, Didem; Almuqbil, Mohammed; Nyhan, William L.

JIMD Rep; 54(1): 3-8, 2020 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-32685343

18.

Newborn screening.

Sahai, Inderneel; Marsden, Deborah.

Crit Rev Clin Lab Sci; 46(2): 55-82, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-19255915

19.

Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.

Marsden, Deborah Louise.

Mol Genet Metab; 96(3): 81-2, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19081279

20.

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders.

Mulberg, Andrew E; Bucci-Rechtweg, Christina; Giuliano, Joseph; Jacoby, David; Johnson, Franklin K; Liu, Qing; Marsden, Deborah; McGoohan, Scott; Nelson, Robert; Patel, Nita; Romero, Klaus; Sinha, Vikram; Sitaraman, Sheela; Spaltro, John; Kessler, Vivian.

Orphanet J Rare Dis; 14(1): 36, 2019 02 08.

Artículo en Inglés | MEDLINE | ID: mdl-30736861

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