Estudo de prevalência em recém-nascidos por deficiência de biotinidase

by Anna L. R. Pinto, Kimiyo M. Raymond, Isac Bruck, Sérgio A Antoniuk

Estudo de prevalência em recém-nascidos por deficiência de biotinidase Neonatal screening for biotinidase deficiency

by Anna L. R. Pinto, Kimiyo M. Raymond, Isac Bruck, Sérgio A Antoniuk
Published 1998-04-01

Estudo de prevalência em recém-nascidos por deficiência de biotinidase

by Anna L. R. Pinto, Kimiyo M. Raymond, Isac Bruck, Sérgio A Antoniuk
Published 1998-04-01

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

by Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova
Published 2019-04-01

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

by Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava
Published 2021-02-01

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

by Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern
Published 2020-05-01

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

by Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker, Iván Martínez-Duncker
Published 2021-09-01

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

by Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker, Iván Martínez-Duncker
Published 2021-09-01