default author photo

Fernando Scaglia

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

4

DOWNLOADS

274

TOTAL CITATIONS

0

Scholarly Papers (4)

Actions:
Email selected abstracts
1.

Goal Attainment in PMM2-CDG: A New Approach Measuring Meaningful Clinical Outcomes

Number of pages: 18 Posted: 15 Nov 2024
Eva Morava, Sanne Verberkmoes, Gina L. Mazza, Andrew Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel, Mirian Janssen, Jehan Mousa, Austin Larson, Rameen Shah, Georgia McDonald, Kyriakie Sarafoglou, Gerard T. Berry, Tamas Kozicz and Christina Lam
Mayo Clinic, Radboud University Nijmegen, Mayo Clinic, Mayo Clinic, affiliation not provided to SSRN, Seattle Children's Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Colorado Denver, affiliation not provided to SSRN, Mount Sinai School of Medicine, affiliation not provided to SSRN, Harvard University - Robert’s Program for Sudden Unexpected Death in Pediatrics, Mount Sinai School of Medicine and University of Washington
Downloads 84 (803,225)

Abstract:

Loading...

Goal attainment scaling, Phosphomannomutase, patient reported outcome, genotype-phenotype, Congenital Disorders of Glycosylation

2.

Time to Harmonize Mitochondrial Syndrome Nomenclature and Classification: A Consensus from the North American Mitochondrial Disease Consortium (Namdc)

Number of pages: 21 Posted: 14 Mar 2022
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P. Saneto, Bruce H. Cohen, Boyd Buis, Fernando Scaglia, Charles Hoppel, Xiomara Q. Rosales, Emanuele Barca, Richard Buchsbaum, John L. Thompson, Salvatore DiMauro and Michio Hirano
Columbia University - Irving Medical Center, Mount Sinai Health System - Icahn School of Medicine, affiliation not provided to SSRN, University of California, San Diego (UCSD) - School of Medicine, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, VU University Amsterdam, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Columbia University - Irving Medical Center, affiliation not provided to SSRN, affiliation not provided to SSRN, Columbia University - Irving Medical Center and Columbia University - Irving Medical Center
Downloads 82 (796,622)

Abstract:

Loading...

mitochondrial disease, mitochondrial disorders, oxidative-phosphorylation, mitochondrial DNA

3.

Causes of Mortality in the Congenital Disorders of Glycosylation

Number of pages: 35 Posted: 18 Dec 2024
Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Eva Morava, Austin Larson and Andrew Edmondson
King Faisal Specialist Hospital and Research Centre, Seattle Children's Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Washington, Mount Sinai School of Medicine, University of Colorado Denver and Mayo Clinic
Downloads 65 (916,100)

Abstract:

Loading...

CDG, congenital disorders of glycosylation, mortality, N-linked glycosylation, O-linked glycosylation, PMM2-CDG, ALG6-CDG

4.

Untargeted Metabolomics Analysis as a Potential Screening Tool for 3-Methylglutaconic Aciduria Syndromes

Number of pages: 17 Posted: 03 Oct 2024
Charles Difalco, Charul Gijavanekar, Yue Wang, Alexandra N. Grace, Keren Machol, Lisa Emrick, Ning Liu, Elizabeth Mizerik, Laura Mackay, Hongzheng Dai, Liesbeth Vossaert, Fan Xia, Sarah H. Elsea and Fernando Scaglia
affiliation not provided to SSRN, affiliation not provided to SSRN, Baylor Genetics, affiliation not provided to SSRN, affiliation not provided to SSRN, Baylor College of Medicine, Baylor Genetics, affiliation not provided to SSRN, University of Texas at Dallas - Southwestern Medical Center, Baylor Genetics, Baylor Genetics, Baylor Genetics, affiliation not provided to SSRN and affiliation not provided to SSRN
Downloads 43 (1,145,425)

Abstract:

Loading...

3-methylglutaconic aciduria, mitochondrial disorders, untargeted metabolomics