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Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris

Espejo Mojica, Angela Johana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Mosquera, Angela Rocío; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Rodríguez-López, Edwin Alexander; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia Chemistry Department, School of Science, Pontificia Universidad Javeriana, Bogotá, Colombia; Díaz, Dennis Johana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Betrán, Laura Milena; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Hernández, Francy Liliana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Alméciga Díaz, Carlos Javier; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia; Barrera, Luis Alejandro; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia Clínica de Errores Innatos del Metabolismo. Hospital Universitario San Ignacio. Bogotá, Colombia.

Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo

Wajner, Moacir; R. Vargas, Carmen; Burin, Maira; Giugliani, Roberto; C. Coelho, Janice (HCPA/FAMED/UFRGS, 2022)

Treatment strategies for inborn erros of metabolismEstratégias de tratamento para os erros inatos do metabolismo

F. M. Souza, Carolina; R. Cecchin, Claudia; H. B. Maegawa, Gustavo; I. Zandoná, Denise; F. Pires, Ricardo (HCPA/FAMED/UFRGS, 2022)

Selective screening of 18,000 high-risk Brazilian patients for the detection of inborn errors of metabolismInvestigação seletiva de 18 mil pacientes brasileiros de alto risco para a detecção de erros inatos do metabolismo

C. Coelho, Janice; G. Burin, Maira; Wajner, Moacir; R. Vargas, Carmem; T. S. Souza, Fernanda; Giugliani, Roberto (HCPA/FAMED/UFRGS, 2022)

Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup

Kauffman, Marcelo Andres; González Morón, Dolores; Consalvo, Damian; Kochen, Sara Silvia (Lippincott Williams, 2012-04)

Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...

BPAN manifesting with febrile seizures and language delay:a case report from Brazil

Alves Silva, Maria Cecília de Mattos; Batista Rezende, Thayane Rosas; Carneiro, Zumira A.; Lourenço, Charles Marques (HCPA/FAMED/UFRGS, 2021)

Plasma excitatory amino acids in autism

Moreno Fuenmayor, Humberto; Borjas, Lisbeth; Arrieta, Arelis; Valera, Verónica; Socorro Candanoza, Lerle (Universidad del Zulia, 2013)

Prenatal Diagnosis: advances and prospectivesDiagnóstico pré-natal: avanços e perspectivas

Vieira Sanseverino, Maria Teresa; G. Kessler, Rejane; G. Burin, Maira; R. Stein, Nina; F. Herman, Rafaela; Matte, Ursula; M. M. Barrios, Patrícia; A. Magalhães, José (HCPA/FAMED/UFRGS, 2022)

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative

Mehta, Atul; Kuter, David J.; Salek, Sam S.; Belmatoug, Nadia; Bembi, Bruno; Bright, Jeremy; vom Dahl, Stephan; Deodato, Federica; Di Rocco, Maja; Göker Alpan, Ozlem; Hughes, Derralynn A.; Lukina, Elena A.; Machaczka, Maciej; Mengel, Eugen; Nagral, Aabha; Nakamura, Kimitoshi; Narita, Aya; Oliveri, María Beatriz; Pastores, Gregory; Pérez-López, Jordi; Ramaswami, Uma; Schwartz, Ida V.; Szer, Jeff; Weinreb, Neal J.; Zimran, Ari (Wiley Blackwell Publishing, Inc, 2019-05)

Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...

The Innate Errors of the Metabolism, Inexhaustible Source of Medical Knowledge for More Than One Century, They Continue Without Diagnosed in Colombia.Los Errores Innatos del Metabolismo, Fuente Inagotable de Conocimiento Médico por Más de un Siglo, Siguen Sin Diagnosticarse y Tratarse en Colombia.

Barrera BQ PhD, Luis A.