Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015)

JOURNAL ARTICLE published 2019 in Journal of Inborn Errors of Metabolism and Screening

Authors: Aura Fúnez | María Eugenia Lara | Ana Cecilia Chévez | Efrén Alí Castellón | Salvador Perán | María Josefa Toro | Eladio Montoya | José Carlos Moreno varro

Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria

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

Authors: Donald H. Chace | William H. Hannon

Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach

JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening

Authors: Eduardo Esteban | Daniel Aimone

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

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

Authors: Bruna B. dos Santos | Tatiéle Nalin | Kamila C. Grokoski | Ingrid D. S. Perry | Lilia F. Refosco | Filippo P. Vairo | Carolina F. M. Souza | Ida V. D. Schwartz

Epilepsy and Mitochondrial Dysfunction

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

Authors: Russell P. Saneto

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

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

Authors: Nilton Salles Rosa Neto | Judith Campos de Barros Bento | Rosa Maria Rodrigues Pereira

A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

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

Authors: Christian J. Hendriksz | Joseph Muenzer | Barbara K. Burton | Luying Pan | Nan Wang | Hicham Naimy | Arian Pano | Ann J. Barbier

Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening

Authors: Helio van der Linden Jr. | Christiane Cobas | Andre Felipe Pinto Duarte | Marcelo Rodrigues Masruha

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

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

Authors: Johana Ramírez Borda | Alfredo Uribe-Ardila

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

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

Authors: Paula A Rozenfeld | Romina Ceci | Norma Roa | Isaac Kisinovsky

The Link Between Hyperhomocysteinemia and Hypomethylation

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

Authors: Madalena Barroso | Diane E. Handy | Rita Castro

A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria

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

Authors: Nadia Giarratana | Guglielmo Gallina | Valentina Panzeri | Alessandra Frangi | Andrea Canobbio | Giorgio Reiner

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

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

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

Authors: Kathleen W. Wyrwich | Angela Schulz | Miriam Nickel | Peter Slasor | Temitayo Ajayi | David R. Jacoby | Alfried Kohlschütter

Newborn Screening for Phenylketonuria

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

Authors: Gustavo J. C. Borrajo

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening

Authors: Filip Pančík | Zuzana Pakanová | Marek Nemčovič | Filip Květoň | Anna Šalingová | Anna Hlavatá | Stanislav Kozmon | Peter Baráth

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

JOURNAL ARTICLE published 2020 in Journal of Inborn Errors of Metabolism and Screening

Authors: Kaustuv Bhattacharya | Shanti Balasubramaniam | Kevin Murray | Heidi Peters | David Ketteridge | Anita Inwood | Joy Lee | Carolyn Ellaway | Penny Owens | Melanie Wong | Christine Ly | Jim McGill

Characterization of the SRD5A3-CDG Clinical Spectrum

JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening

Authors: Victor Daescu | Daniel Horton | Kimberly Goodspeed

Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)

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

Research funded by Biomarin Colombia LTDA (Sponsored the translation and publication of this)

Authors: Johanna Acosta Guio | Gustavo AdolfoGiraldo-Ospina

Gene Therapy for Lysosomal Storage Disorders

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

Authors: Esteban Alberto Gonzalez | Guilherme Baldo