Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening

Authors: Matheus V. M. B. Wilke | Ruben H. de Kleine | J. K. G. Wietasch | Cynthia C. A. van Amerongen | Hans Blokzijl | Francjan J. van Spronsen | Ida V. D. Schwartz | Terry G. J. Derks

Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening

Authors: Daniela Arturo Terranova | Lina Johanna Moreno Giraldo | Henry Idrobo | José María Satizabal

Anderson-Fabry Disease

JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening

Authors: Idalina Beirão | Ana Cabrita | Márcia Torres | Fernando Silva | Patricio Aguiar | Ana Marta Gomes

Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening

Authors: José Ramón Alonso-Fernández | Javier Fidalgo López

Advances in Mitochondrial Medicine

JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening

Authors: Gregory M. Enns

Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh

JOURNAL ARTICLE published 2022 in Journal of Inborn Errors of Metabolism and Screening

Authors: Abdul Alim Al-Bari

Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

JOURNAL ARTICLE published 18 February 2015 in Journal of Inborn Errors of Metabolism and Screening

Authors: Gustavo Adolfo Giraldo | F. Suárez-Obando | L. Mora | P. Sánchez | J. C. Prieto

Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort

JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening

Authors: Nerina Martinez | Julieta Rosales | Nancy Medina | Josefina Perez-Maturo | Valeria Salinas | Lucia Zavala | Patricia Vega | Sergio Rodríguez-Quiroga | Dolores González- Morón | Marcelo A. Kauffman

Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening

Authors: Claudia B. Catarino | Thomas Klopstock

Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease

JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening

Authors: Azza A. G. Tantawy | Amal El-Beshlawy | Iman Marzouk | Ashish Bavdekar | Yulin Qin | Björn Mellgard | Hadhami Ben Turkia

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening

Research funded by Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina (Fellow)

Authors: Laura E. Laróvere | Silene M. Silvera Ruiz | José A. Arranz | Raquel Dodelson de Kremer

Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina

JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening

Authors: Ana Clara Bernal | Maria Cruz Tubio | Carolina Crespo | Hernán Diego Eiroa

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening

Authors: Isabel Ibarra-González | Cynthia Fernández-Lainez | Sara Guillén-López | Lizbeth López-Mejía | Leticia Belmont-Martínez | Rosa Itzel Nieto-Carrillo | Marcela Vela-Amieva

Abstracts of Free Communications Accepted for Presentation at the IX Latin American Congress of Inborn Errors of Metabolism and Newborn Screening, Medellin, Colombia, December 1 to 4, 2013

JOURNAL ARTICLE published 30 July 2013 in Journal of Inborn Errors of Metabolism and Screening

JIEMS Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017)

JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening

Authors: Roberto Giugliani

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening

Research funded by National Institutes of Health (NIH) National Center for Advancing Translational Sciences (UL1 TR000004)

Authors: Adrian Quartel | Paul R. Harmatz | Christina Lampe | Nathalie Guffon | David Ketteridge | Elisa Leão-Teles | Simon A. Jones | Roberto Giugliani

Lysosome

JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening

Authors: Ursula Matte | Gabriela Pasqualim

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening

Authors: Sara Poggiali | Daniela Ombrone | Giulia Forni | Sabrina Malvagia | Silvia Funghini | Massimo Mura | Elisabetta Pasquini | Laura Santoro | Vincenzo Bellavia | Orazia Maria Granata | Cinzia Castana | Kathleen S. McGreevy | Tommaso Silvano Aronica | Giancarlo la Marca

Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots

JOURNAL ARTICLE published 2022 in Journal of Inborn Errors of Metabolism and Screening

Authors: Jesus Alfredo Uribe-Ardila | John Freddy Gamba-Rendon

Book of Abstracts

JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening