Hyperprolinemia Type IA

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

Authors: Piero Pavone | Andrea D. Praticò | Giovanni Sorge | Concetta Meli | Martino Ruggieri | Renata Rizzo | Agata Fiumara

Dietary Management of the Ketogenic Glycogen Storage Diseases

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

Authors: Kaustuv Bhattacharya | Jennifer Pontin | Sue Thompson

Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation

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

Authors: Nilton Salles Rosa Neto

Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses

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

Authors: Julia Valeriano de Almeida | Anneliese Lopes Barth | Alessandra Augusta Penna e Costa | Dafne Dain Gandelman Horovitz

Folate and Cancer

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

Authors: Luciana Yuki Tomita

New Aspects of LSD

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

Authors: Michael Beck

A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)

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

Authors: Fernanda Tenório | Carolina Fischinger Moura de Souza

The Role of Technology in the Neonatal Screening Laboratory

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

Authors: Víctor R. De Jesús

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

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

Authors: Fiona Stewart | Andrew Bentley | Barbara K Burton | Nathalie Guffon | Susan L. Hale | Paul R. Harmatz | Susanne G. Kircher | Pavan K. Kochhar | John J. Mitchell | Ursula Plöckinger | Jennifer Semotok | Sue Graham | Stephen Sande | Zlatko Sisic | Tracey A. Johnston

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

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

Authors: Favio Pesaola | Guillermo Guelbert | Ana Clara Venier | Inés Adriana Cismondi | Adriana Becerra | Juan Carlos G. Vazquez | Elmer Fernandez | Ana Lucia De Paul | Norberto Guelbert | Inés Noher

Glycogen Storage Diseases

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

Authors: Terry G. J. Derks | Carolina Fischinger Moura de Souza

Clinical Trials in Mitochondrial Disease

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

Authors: Gregory M. Enns | Bruce H. Cohen

Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

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

Research funded by “FH Zeit für Forschung 2016” by the Ministry of Culture and Science of the German state of North Rhine-Westphalia (project 005-1703-0016, “KETOplus”)

Authors: Jörn Oliver Sass | Malkanthi Fernando | Sidney Behringer

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

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

Authors: Miyono M. Hendrix | Stephanie L. Foster | Suzanne K. Cordovado

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

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

Authors: Rosa E. Enacán | Mariana Nuñez Miñana | Luis Fernandez | Maria Gabriela Valle | Mercedes Salerno | Claudia I. Fraga | Fernando Santos-Simarro | Laura Prieto | Pablo Lapunzina | Norma Specola | Ana Elena Chiesa

Small Molecules

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

Authors: Saida Ortolano

Microbial Profile of Supragingival and Subgingival Plaque of Patients With Glycogen Storage Disease

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

Authors: Chealsea E. Garcia | Abimbola O. Adewumi | Yan Gong | Hong Huang | David A. Weinstein | Marcelle M. Nascimento | Luciana M. Shaddox

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

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

Authors: Pallavelangini Swetha | Inusha Panigrahi | Akshay Saxena | Anupriya Kaur | Rozy Thakur

Leigh Syndrome Due to mtDNA Pathogenic Variants

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

Authors: Cristina Pereira | Carolina Fischinger de Souza | Leonardo Vedolin | Filippo Vairo | Cláudia Lorea | Cláudia Sobreira | Célia Nogueira | Laura Vilarinho

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

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

Authors: Lorne Clarke | Carolyn Ellaway | Helen E. Foster | Roberto Giugliani | Cyril Goizet | Sarah Goring | Sara Hawley | Elaina Jurecki | Zaeem Khan | Christina Lampe | Ken Martin | Suzanne McMullen | John J. Mitchell | Fathima Mubarack | H. Serap Sivri | Martha Solano Villarreal | Fiona J. Stewart | Anna Tylki-Szymanska | Klane White | Frits Wijburg