Corrigendum to ' Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry' [32/100888 (2022) page 1–4].

Autor: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100945- (2023)

Externí odkaz: https://doaj.org/article/406b9bb4aec246ce8befa5dec9f86fa8

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

Autor: 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

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

Abstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma usin

Externí odkaz: https://doaj.org/article/eb149316c07c43b897c7c1aa5235fb39

Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

Autor: Graziela Schmitt Ribas PhD, Jurema Fátima De Mari, Gabriel Civallero PhD, Heryk Motta de Souza, Maira Graeff Burin PhD, Carmen Regla Vargas PhD, Roberto Giugliani PhD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In

Externí odkaz: https://doaj.org/article/ce833493563641e6a5b3bc28e45ba1f4

Corrigendum to ' Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry' [32/100888 (2022) page 1–4]

Autor: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani

Publikováno v: Mol Genet Metab Rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ef75b8ef82bbd69d12f618cfc1ae29
https://europepmc.org/articles/PMC9979259/

High-risk screening and diagnosis of inborn errors of metabolism : a practical guide for laboratories

Autor: Gabriel Civallero, Raquel Dodelson de Kremer, Roberto Giugliani

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Inborn Errors of Metabolism and Screening v.6 2018
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 6, Article number: e180010, Published: 28 FEB 2019

Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step. The number of lab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f093c4b9176c8ca745a68bbb167975a