Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

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

Authors: Mariela Larrandaburu | Fernanda L.S Vianna | Karina Griot | Cecilia Queijo | Gabriela Monzón | Cecilia Ugarte | Luis Nacul | Lavinia Schuler-Faccini | Maria Teresa V. Sanseverino

A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB

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

Authors: Laritza Martínez Rey | Tatiana Acosta Sánchez | Deynis Carmenate Naranjo | Hector Vera Cuesta

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia

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

Authors: Daniel Eduardo Manrique Hernandez | Diana Sanchez-Peñarete | Sandra Milena Castellar-Leones | Lisseth Cabarcas-Castro

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

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

Authors: Dafne D G Horovitz | Márcia G Ribeiro | Angelina X Acosta | Ana C Monteiro | Jaco Botha | Roberto Giugliani

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

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

Authors: K. Fuenzalida | A. Valiente | A. Faundez | P. Guerrero | V. Soto | M.J. Leal-Witt | J.F. Cabello | V. Cornejo

Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis”

JOURNAL ARTICLE published 2024 in Journal of Inborn Errors of Metabolism and Screening

Authors: Carlos Eduardo Steiner | Luciana Cardoso Bonadia

Expected Benefits and Challenges of Using Economic Evaluations to Make Decisions About the Content of Newborn Screening Programs in Vietnam: A Scoping Review of the Literature

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

Authors: Van Hoa Ho | Yves Giguère | Daniel Reinharz

Late Breaking News Abstracts Accepted for Presentation at the 13th International Congress of Inborn Errors of Metabolism (September 5-8, Rio de Janeiro, Brazil)

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

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers

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

Authors: Bruna Bento dos Santos | Bibiana Mello de Oliveira | Vaneisse C. Lima Monteiro | Soraia Poloni | Tassia Tonon | Ida V. D. Schwartz

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

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

Authors: Norberto Guelbert | Nora Atanacio | Inés Denzler | Emília Katiane Embiruçu | Nury Mancilla | Ricardo Naranjo | André Pessoa | Norma Spécola | Lina Tavera | Mónica Troncoso | Diane Vergara

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

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

Authors: Anneliese L. Barth | Dafne D. G. Horovitz

Lysosomal Storage Diseases

JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening

Authors: Joseph Alroy | Jeremiah A. Lyons

Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods

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

Authors: Fernanda Medeiros Sebastião | Maira Graeff Burin | Gabriel Civallero | Kristiane Michelin Tirelli | Angela Sitta | Daniella de Moura Coelho | Carmen Regla Vargas | Moacir Wajner | Roberto Giugliani | Fernanda Hendges de Bitencourt | Ida Vanessa Doederlein Schwartz

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening

Authors: Ibarra-González Isabel | Fernández-Lainez Cynthia | Reyes-González Diana | Belmont-Martínez Leticia | Guillén-López Sara | Monroy-Santoyo Susana | Vela-Amieva Marcela

Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry

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

Authors: Antonio Bermúdez | Dora Robayo | Gloria Porras | María Amparo Acosta

The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders

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

Authors: Katalin Komlosi | Alexander Sólyom | Michael Beck

Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years’ Experience

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

Authors: Elisa M. Castells | Aramis Sánchez | Amarilys Frómeta | Yanin Moksde | Eladio Silva | Nelson Ozunas | Tania Licourt | Ana L. Arteaga | Teresa Collazo | Fidel Rodríguez | Odalys Martín | Maryeris Espinosa | Lesley del Río | Pedro L. Pérez | Greilys Morejón | Claudia Almira | Zoe Núñez | Antonio Melchor | Ernesto C. González

Clinical Application of Liquid Chromatography Tandem Mass Spectrometry Using Dried Blood Spot as a More Rapid Method for Determination of Methylmalonic Acid, Propionylcarnitine, and Total Homocysteine

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

Authors: Hiroyuki Iijima | Nobuyuki Ishige | Mitsuru Kubota

Hampered Vitamin B12 Metabolism in Gaucher Disease?

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

Authors: Luciana Hannibal | Marina Siebert | Suélen Basgalupp | Filippo Vario | Ute Spiekerkoetter | Henk J. Blom

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

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

Research funded by Chiesi Farmaceutici S.p.A. (Not applicable)

Authors: Line Borgwardt | Nathalie Guffon | Yasmina Amraoui | Simon A. Jones | Linda De Meirleir | Allan M. Lund | Mercedes Gil-Campos | Johanna M. P. Van den Hout | Anna Tylki-Szymanska | Silvia Geraci | Diego Ardigò | Federica Cattaneo | Paul Harmatz | Dawn Phillips